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estd206 (Nagirnaja et al. 2014)

Organism:
Human
Study Type:
Case-Control
Submitter:
Liina Nagirnaja
Description:
The study aimed to determine the contribution of copy number variants in the genetic etiology of recurrent miscarriage (RM; defined as =3 consecutive miscarriages before gestational week 22). See Variant Summary counts for estd206 in dbVar Variant Summary.
Publication(s):
Nagirnaja et al. 2014

Detailed Information: Download 513 Variant Regions, Download 915 Variant Calls, Download Both, FTP

Variant Summary

Assembly used for analysis:
Remapped: GRCh38.p12 (hg38)
Remapped: GRCh37.p13 (hg19)
Submitted: NCBI36 (hg18)

Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.11Chr13751RemappedNC_000001.11
NC_000002.12Chr24779RemappedNC_000002.12
NC_000003.12Chr33774RemappedNC_000003.12
NC_000004.12Chr43260RemappedNC_000004.12
NC_000005.10Chr52141RemappedNC_000005.10
NC_000006.12Chr63183RemappedNC_000006.12
NC_000007.14Chr72134RemappedNC_000007.14
NC_000008.11Chr82887RemappedNC_000008.11
NC_000009.12Chr92332RemappedNC_000009.12
NC_000010.11Chr102540RemappedNC_000010.11
NC_000011.10Chr112952RemappedNC_000011.10
NC_000012.12Chr122648RemappedNC_000012.12
NC_000013.11Chr132132RemappedNC_000013.11
NC_000014.9Chr141628RemappedNC_000014.9
NC_000015.10Chr151937RemappedNC_000015.10
NC_000016.10Chr162130RemappedNC_000016.10
NC_000017.11Chr17912RemappedNC_000017.11
NC_000018.10Chr18718RemappedNC_000018.10
NC_000019.10Chr19910RemappedNC_000019.10
NC_000020.11Chr201012RemappedNC_000020.11
NC_000021.9Chr211415RemappedNC_000021.9
NC_000022.11Chr22812RemappedNC_000022.11
NC_000023.11ChrX1719RemappedNC_000023.11
NT_187515.1Chr1|NT_187515.111RemappedNT_187515.1
NW_018654708.1Chr1|NW_018654708.111RemappedNW_018654708.1
NW_019805488.1Chr3|NW_019805488.111RemappedNW_019805488.1
NW_019805489.1Chr3|NW_019805489.128RemappedNW_019805489.1
NT_187542.1Chr4|NT_187542.111RemappedNT_187542.1
NW_003315915.1Chr4|NW_003315915.111RemappedNW_003315915.1
NW_016107297.1Chr5|NW_016107297.111RemappedNW_016107297.1
NW_016107298.1Chr5|NW_016107298.111RemappedNW_016107298.1
NT_167246.2Chr6|NT_167246.2726RemappedNT_167246.2
NT_167247.2Chr6|NT_167247.247RemappedNT_167247.2
NT_167249.2Chr6|NT_167249.2615RemappedNT_167249.2
NT_167245.2Chr6|NT_167245.221RemappedNT_167245.2
NT_187562.1Chr7|NT_187562.111RemappedNT_187562.1
NW_018654716.1Chr8|NW_018654716.111RemappedNW_018654716.1
NW_018654717.1Chr8|NW_018654717.111RemappedNW_018654717.1
NW_013171806.1Chr10|NW_013171806.123RemappedNW_013171806.1
NT_187586.1Chr11|NT_187586.111RemappedNT_187586.1
NW_019805495.1Chr11|NW_019805495.125RemappedNW_019805495.1
NT_187587.1Chr12|NT_187587.128RemappedNT_187587.1
NW_003315939.2Chr12|NW_003315939.211RemappedNW_003315939.2
NT_187600.1Chr14|NT_187600.113RemappedNT_187600.1
NT_187660.1Chr15|NT_187660.111RemappedNT_187660.1
NW_011332701.1Chr15|NW_011332701.111RemappedNW_011332701.1
NT_187607.1Chr16|NT_187607.111RemappedNT_187607.1
NW_017852933.1Chr16|NW_017852933.122RemappedNW_017852933.1
NT_187661.1Chr17|NT_187661.111RemappedNT_187661.1
NT_187614.1Chr17|NT_187614.111RemappedNT_187614.1
NT_187693.1Chr19|NT_187693.126RemappedNT_187693.1
NW_003315962.1Chr19|NW_003315962.111RemappedNW_003315962.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.10Chr13852RemappedNC_000001.10
NC_000002.11Chr24779RemappedNC_000002.11
NC_000003.11Chr33774RemappedNC_000003.11
NC_000004.11Chr43260RemappedNC_000004.11
NC_000005.9Chr52141RemappedNC_000005.9
NC_000006.11Chr63183RemappedNC_000006.11
NC_000007.13Chr72134RemappedNC_000007.13
NC_000008.10Chr82887RemappedNC_000008.10
NC_000009.11Chr92332RemappedNC_000009.11
NC_000010.10Chr102540RemappedNC_000010.10
NC_000011.9Chr113053RemappedNC_000011.9
NC_000012.11Chr122648RemappedNC_000012.11
NC_000013.10Chr132132RemappedNC_000013.10
NC_000014.8Chr141628RemappedNC_000014.8
NC_000015.9Chr151936RemappedNC_000015.9
NC_000016.9Chr162130RemappedNC_000016.9
NC_000017.10Chr17912RemappedNC_000017.10
NC_000018.9Chr18718RemappedNC_000018.9
NC_000019.9Chr19910RemappedNC_000019.9
NC_000020.10Chr201012RemappedNC_000020.10
NC_000021.8Chr211415RemappedNC_000021.8
NC_000022.10Chr22812RemappedNC_000022.10
NC_000023.10ChrX1719RemappedNC_000023.10
NW_003871055.3Chr1|NW_003871055.335RemappedNW_003871055.3
NW_003315915.1Chr4|NW_003315915.111RemappedNW_003315915.1
NT_167245.1Chr6|NT_167245.121RemappedNT_167245.1
NT_167246.1Chr6|NT_167246.11029RemappedNT_167246.1
NT_167247.1Chr6|NT_167247.147RemappedNT_167247.1
NT_167249.1Chr6|NT_167249.1615RemappedNT_167249.1
NW_003571040.1Chr7|NW_003571040.111RemappedNW_003571040.1
NW_003315923.1Chr8|NW_003315923.112RemappedNW_003315923.1
NW_003315924.1Chr8|NW_003315924.111RemappedNW_003315924.1
NW_003315932.1Chr10|NW_003315932.111RemappedNW_003315932.1
NW_003871068.1Chr10|NW_003871068.127RemappedNW_003871068.1
NW_003571046.1Chr11|NW_003571046.111RemappedNW_003571046.1
NW_003315939.1Chr12|NW_003315939.111RemappedNW_003315939.1
NW_004166863.1Chr14|NW_004166863.113RemappedNW_004166863.1
NW_003315949.1Chr17|NW_003315949.111RemappedNW_003315949.1
NW_003315950.2Chr17|NW_003315950.211RemappedNW_003315950.2
NW_003315962.1Chr19|NW_003315962.111RemappedNW_003315962.1
NW_003571053.2Chr19|NW_003571053.223RemappedNW_003571053.2
NW_004166865.1Chr19|NW_004166865.126RemappedNW_004166865.1
NW_003571063.2Chr20|NW_003571063.201RemappedNW_003571063.2
NW_003871103.3ChrX|NW_003871103.322RemappedNW_003871103.3
NW_004070880.2ChrX|NW_004070880.211RemappedNW_004070880.2
NW_004070887.1ChrX|NW_004070887.111RemappedNW_004070887.1
NW_004070890.2ChrX|NW_004070890.211RemappedNW_004070890.2
NW_004070892.1ChrX|NW_004070892.111RemappedNW_004070892.1
Sequence IDChrNumber of Variant RegionsNumber of Variant CallsPlacement typeLink to graphical display
NC_000001.9Chr13852SubmittedNC_000001.9
NC_000002.10Chr24779SubmittedNC_000002.10
NC_000003.10Chr33774SubmittedNC_000003.10
NC_000004.10Chr43260SubmittedNC_000004.10
NC_000005.8Chr52141SubmittedNC_000005.8
NC_000006.10Chr63183SubmittedNC_000006.10
NC_000007.12Chr72134SubmittedNC_000007.12
NC_000008.9Chr82887SubmittedNC_000008.9
NC_000009.10Chr92332SubmittedNC_000009.10
NC_000010.9Chr102540SubmittedNC_000010.9
NC_000011.8Chr113154SubmittedNC_000011.8
NC_000012.10Chr122648SubmittedNC_000012.10
NC_000013.9Chr132132SubmittedNC_000013.9
NC_000014.7Chr141628SubmittedNC_000014.7
NC_000015.8Chr151937SubmittedNC_000015.8
NC_000016.8Chr162130SubmittedNC_000016.8
NC_000017.9Chr17912SubmittedNC_000017.9
NC_000018.8Chr18718SubmittedNC_000018.8
NC_000019.8Chr191116SubmittedNC_000019.8
NC_000020.9Chr201012SubmittedNC_000020.9
NC_000021.7Chr211415SubmittedNC_000021.7
NC_000022.9Chr22812SubmittedNC_000022.9
NC_000023.9ChrX1719SubmittedNC_000023.9

Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr13834100352461005
NC_000002.10Chr24744120079761200
NC_000003.10Chr33737000074740000
NC_000004.10Chr43231000160590001
NC_000005.8Chr52121000041410000
NC_000006.10Chr6311900012834700036
NC_000007.12Chr72120000134330001
NC_000008.9Chr82823030287790503
NC_000009.10Chr92322010032310100
NC_000010.9Chr102521010340310108
NC_000011.8Chr113128120054511200
NC_000012.10Chr122625000148470001
NC_000013.9Chr132121000032320000
NC_000014.7Chr141614100128232003
NC_000015.8Chr151917020037271810
NC_000016.8Chr162121000030300000
NC_000017.9Chr179601021281102
NC_000018.8Chr1877000018180000
NC_000019.8Chr1911620031666004
NC_000020.9Chr20109010012100101
NC_000021.7Chr211414000015150000
NC_000022.9Chr2288000012120000
NC_000023.9ChrX1711000619130006
Variant Region remap statusVariant Call remap status
Sequence IDChrVariant Regions on sourcePerfectGoodPassFailMultVariant Calls on sourcePerfectGoodPassFailMult
NC_000001.9Chr13830411252425212
NC_000002.10Chr24743220079734200
NC_000003.10Chr33732200374623009
NC_000004.10Chr43230000260580002
NC_000005.8Chr52119000241390002
NC_000006.10Chr6311801012834601036
NC_000007.12Chr72120000134330001
NC_000008.9Chr82822130287781602
NC_000009.10Chr92322010032310100
NC_000010.9Chr102520210240332203
NC_000011.8Chr113124202354442026
NC_000012.10Chr122623000348390009
NC_000013.9Chr132120010032310100
NC_000014.7Chr141611220128202303
NC_000015.8Chr151915020237251902
NC_000016.8Chr162118000330270003
NC_000017.9Chr179620011283001
NC_000018.8Chr1876100018171000
NC_000019.8Chr19119100116141001
NC_000020.9Chr201010000012120000
NC_000021.7Chr211413100015141000
NC_000022.9Chr2287100012111000
NC_000023.9ChrX1712410019144100

Samplesets

Number of Samplesets: 2

Sampleset ID:
1
Name:
RM
Sampleset Type:
Case
Description:
Unexplained recurrent miscarriage (RM) cases with =3 consecutive miscarriage before gestational week 22. All recruited patients had a normal karyotype tested from peripheral blood lymphocyte cultures and known clinical risk factors of RM have been excluded.
Size:
43
Organisms:
Homo sapiens
Sampleset Phenotype(s):
Recurrent miscarriage
  • Download Samples as CSV file
  • Samples for sampleset 1
    Sample IDSubject ID SexEthnicitySubject Phenotype
    RM-M16RM-M16MaleEstoniaRecurrent miscarriage
    RM-F7RM-F7FemaleEstoniaRecurrent miscarriage
    RM-F12RM-F12FemaleEstoniaRecurrent miscarriage
    RM-M4RM-M4MaleEstoniaRecurrent miscarriage
    RM-F5RM-F5FemaleEstoniaRecurrent miscarriage
    RM-F2RM-F2FemaleEstoniaRecurrent miscarriage
    RM-F22RM-F22FemaleEstoniaRecurrent miscarriage
    RM-F10RM-F10FemaleEstoniaRecurrent miscarriage
    RM-M8RM-M8MaleEstoniaRecurrent miscarriage
    RM-F14RM-F14FemaleEstoniaRecurrent miscarriage
    RM-F20RM-F20FemaleEstoniaRecurrent miscarriage
    RM-F27RM-F27FemaleEstoniaRecurrent miscarriage
    RM-M12RM-M12MaleEstoniaRecurrent miscarriage
    RM-M1RM-M1MaleEstoniaRecurrent miscarriage
    RM-F6RM-F6FemaleEstoniaRecurrent miscarriage
    RM-F23RM-F23FemaleEstoniaRecurrent miscarriage
    RM-M14RM-M14MaleEstoniaRecurrent miscarriage
    RM-F13RM-F13FemaleEstoniaRecurrent miscarriage
    RM-F19RM-F19FemaleEstoniaRecurrent miscarriage
    RM-F25RM-F25FemaleEstoniaRecurrent miscarriage
    RM-M11RM-M11MaleEstoniaRecurrent miscarriage
    RM-F8RM-F8FemaleEstoniaRecurrent miscarriage
    RM-M7RM-M7MaleEstoniaRecurrent miscarriage
    RM-M15RM-M15MaleEstoniaRecurrent miscarriage
    RM-F18RM-F18FemaleEstoniaRecurrent miscarriage
    RM-F26RM-F26FemaleEstoniaRecurrent miscarriage
    RM-M5RM-M5MaleEstoniaRecurrent miscarriage
    RM-F15RM-F15FemaleEstoniaRecurrent miscarriage
    RM-F17RM-F17FemaleEstoniaRecurrent miscarriage
    RM-M13RM-M13MaleEstoniaRecurrent miscarriage
    RM-M6RM-M6MaleEstoniaRecurrent miscarriage
    RM-F24RM-F24FemaleEstoniaRecurrent miscarriage
    RM-M10RM-M10MaleEstoniaRecurrent miscarriage
    RM-M3RM-M3MaleEstoniaRecurrent miscarriage
    RM-F3RM-F3FemaleEstoniaRecurrent miscarriage
    RM-F4RM-F4FemaleEstoniaRecurrent miscarriage
    RM-M2RM-M2MaleEstoniaRecurrent miscarriage
    RM-F16RM-F16FemaleEstoniaRecurrent miscarriage
    RM-F1RM-F1FemaleEstoniaRecurrent miscarriage
    RM-F21RM-F21FemaleEstoniaRecurrent miscarriage
    RM-F11RM-F11FemaleEstoniaRecurrent miscarriage
    RM-M9RM-M9MaleEstoniaRecurrent miscarriage
    RM-F9RM-F9FemaleEstoniaRecurrent miscarriage
    Sampleset ID:
    2
    Name:
    FFC
    Sampleset Type:
    Control
    Description:
    Fertile female controls (FFC) with at least 3 successful pregnancies ending with live birth and with no history of miscarriages at the time of recruitment.
    Size:
    27
    Organisms:
    Homo sapiens
    Sampleset Phenotype(s):
    Healthy individuals
    Sex:
    Female
  • Download Samples as CSV file
  • Samples for sampleset 2
    Sample IDSubject ID SexEthnicitySubject Phenotype
    FFC-34FFC-34FemaleEstoniaHealthy individuals
    FFC-25FFC-25FemaleEstoniaHealthy individuals
    FFC-146FFC-146FemaleEstoniaHealthy individuals
    FFC-108FFC-108FemaleEstoniaHealthy individuals
    FFC-110FFC-110FemaleEstoniaHealthy individuals
    FFC-90FFC-90FemaleEstoniaHealthy individuals
    FFC-91FFC-91FemaleEstoniaHealthy individuals
    FFC-94FFC-94FemaleEstoniaHealthy individuals
    FFC-93FFC-93FemaleEstoniaHealthy individuals
    FFC-95FFC-95FemaleEstoniaHealthy individuals
    FFC-132FFC-132FemaleEstoniaHealthy individuals
    FFC-18FFC-18FemaleEstoniaHealthy individuals
    FFC-101FFC-101FemaleEstoniaHealthy individuals
    FFC-104FFC-104FemaleEstoniaHealthy individuals
    FFC-131FFC-131FemaleEstoniaHealthy individuals
    FFC-84FFC-84FemaleEstoniaHealthy individuals
    FFC-26FFC-26FemaleEstoniaHealthy individuals
    FFC-126FFC-126FemaleEstoniaHealthy individuals
    FFC-63FFC-63FemaleEstoniaHealthy individuals
    FFC-136FFC-136FemaleEstoniaHealthy individuals
    FFC-80FFC-80FemaleEstoniaHealthy individuals
    FFC-121FFC-121FemaleEstoniaHealthy individuals
    FFC-117FFC-117FemaleEstoniaHealthy individuals
    FFC-145FFC-145FemaleEstoniaHealthy individuals
    FFC-148FFC-148FemaleEstoniaHealthy individuals
    FFC-38FFC-38FemaleEstoniaHealthy individuals
    FFC-129FFC-129FemaleEstoniaHealthy individuals

    Experimental Details

    Experiment IDTypeMethodAnalysisPlatformsNumber of Variant Calls
    1DiscoverySNP arrayProbe signal intensityIllumina Human370CNV-Quad915
    2ValidationqPCROtherApplied Biosystems pre-designed TaqMan Copy Number assays9
    3ValidationqPCROtherCustom DNA primers and Applied Biosystems pre-designed TaqMan Copy Number reference assay0

    Validations

    Experiment IDMethodAnalysisPlatformNumber of Variant Calls Validated
    2qPCROtherApplied Biosystems pre-designed TaqMan Copy Number assays9
    3qPCROtherCustom DNA primers and Applied Biosystems pre-designed TaqMan Copy Number reference assay0
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