nsv1108
- Organism: Homo sapiens
- Study:nstd2 (Kidd et al. 2008)
- Variant Type:insertion
- Method Type:Sequencing
- Submitted on:NCBI35 (hg17)
- Variant Calls:7
- Validation:Yes
- Clinical Assertions: No
- Region Size:41,053
- Publication(s):Kidd et al. 2008
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048025400_E17'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000048029700_C19'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049338500_M18'
- TRACE: TEMPLATE_ID='1201894_ABC11_2_1_000049601800_H5'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049743000_E14'
- TRACE: TEMPLATE_ID='1203873_ABC13_11_000049783100_B7'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000047602200_F5'
- TRACE: TEMPLATE_ID='1204935_ABC13_11_000047657700_C23'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000000946122_G18'
- TRACE: TEMPLATE_ID='1205403_ABC13_11_000048837300_C16'
- TRACE: TEMPLATE_ID='1205562_ABC14_3_1_000001191822_I18'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000000947014_A6'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050928900_A11'
- TRACE: TEMPLATE_ID='1207854_ABC14_4_1_000050974400_E4'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050107400_I23'
- TRACE: TEMPLATE_ID='1209408_ABC14_4_1_000050110200_P4'
- TRACE: TEMPLATE_ID='1210216_ABC14_4_1_000050203200_I22'
- TRACE: TEMPLATE_ID='166910_ABC8_000043255600_E15'
- TRACE: TEMPLATE_ID='167098_ABC8_000040862300_C7'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000740022_L2'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000755122_C3'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000000757122_C18'
- TRACE: TEMPLATE_ID='168825_ABC8_4_1_000041129200_N20'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043831400_G1'
- TRACE: TEMPLATE_ID='170215_ABC9_3_2_000043879300_J6'
- TRACE: TEMPLATE_ID='171417_ABC10_2_1_000045519200_M5'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044140100_A21'
- TRACE: TEMPLATE_ID='173650_ABC10_2_1_000044173800_E23'
- TRACE: TEMPLATE_ID='174222_ABC10_2_1_000044585400_J16'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000001606270_J5'
- TRACE: TEMPLATE_ID='174552_ABC10_2_1_000001626370_F7'
- TRACE: TEMPLATE_ID='174779_ABC12_000046356400_P15'
- TRACE: TEMPLATE_ID='174779_ABC12_000046907500_N21'
- Overlapping Genes
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 316 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 51 SVs from 20 studies. See in: genome view
Overlapping variant regions from other studies: 329 SVs from 51 studies. See in: genome view
Overlapping variant regions from other studies: 12 SVs from 7 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nsv1108 | Remapped | Pass | GRCh38.p12 | Primary Assembly | First Pass | NC_000013.11 | Chr13 | - | 84,332,458 | 84,363,347 |
| nsv1108 | Remapped | Pass | GRCh38.p12 | PATCHES | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | - | 38,018 | 79,070 |
| nsv1108 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000013.10 | Chr13 | 84,903,856 | - | 84,937,482 |
| nsv1108 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000013.9 | Chr13 | 83,801,857 | - | 83,835,483 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv4080 | insertion | NA12878 | Sequencing | Paired-end mapping | 1,451 |
| nssv9999 | insertion | NA18956 | Sequencing | Paired-end mapping | 905 |
| nssv5484 | insertion | NA19129 | Sequencing | Paired-end mapping | 1,384 |
| nssv9499 | insertion | NA18507 | Sequencing | Paired-end mapping | 489 |
| nssv1157 | insertion | NA19240 | Sequencing | Paired-end mapping | 1,381 |
| nssv2046 | insertion | NA18555 | Sequencing | Paired-end mapping | 1,472 |
| nssv6571 | insertion | NA12156 | Sequencing | Paired-end mapping | 3,265 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|
| nssv4080 | Remapped | Pass | NW_013171810.1:g.( ?_38018)_(?_69933) ins11773 | GRCh38.p12 | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | - | 38,018 | 69,933 |
| nssv9999 | Remapped | Pass | NW_013171810.1:g.( 38848_?)_(?_79070) ins8051 | GRCh38.p12 | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | 38,848 | - | 79,070 |
| nssv5484 | Remapped | Pass | NW_013171810.1:g.( 39461_?)_(?_64152) ins9586 | GRCh38.p12 | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | 39,461 | - | 64,152 |
| nssv9499 | Remapped | Pass | NW_013171810.1:g.( 45284_?)_(?_62329) ins13820 | GRCh38.p12 | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | 45,284 | - | 62,329 |
| nssv1157 | Remapped | Pass | NW_013171810.1:g.( 47756_?)_(?_66146) ins9312 | GRCh38.p12 | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | 47,756 | - | 66,146 |
| nssv2046 | Remapped | Pass | NW_013171810.1:g.( 48516_?)_(?_75534) ins9608 | GRCh38.p12 | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | 48,516 | - | 75,534 |
| nssv6571 | Remapped | Pass | NW_013171810.1:g.( 49107_?)_(?_67064) ins9855 | GRCh38.p12 | Second Pass | NW_013171810.1 | Chr13|NW_0 13171810.1 | 49,107 | - | 67,064 |
| nssv4080 | Remapped | Pass | NC_000013.11:g.(?_ 84332458)_(?_84354 210)ins11773 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | - | 84,332,458 | 84,354,210 |
| nssv9999 | Remapped | Perfect | NC_000013.11:g.(84 333288_?)_(?_84363 347)ins8051 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 84,333,288 | - | 84,363,347 |
| nssv5484 | Remapped | Perfect | NC_000013.11:g.(84 333901_?)_(?_84348 428)ins9586 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 84,333,901 | - | 84,348,428 |
| nssv9499 | Remapped | Perfect | NC_000013.11:g.(84 339724_?)_(?_84346 605)ins13820 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 84,339,724 | - | 84,346,605 |
| nssv1157 | Remapped | Perfect | NC_000013.11:g.(84 342196_?)_(?_84350 423)ins9312 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 84,342,196 | - | 84,350,423 |
| nssv2046 | Remapped | Perfect | NC_000013.11:g.(84 342956_?)_(?_84359 811)ins9608 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 84,342,956 | - | 84,359,811 |
| nssv6571 | Remapped | Perfect | NC_000013.11:g.(84 343547_?)_(?_84351 341)ins9855 | GRCh38.p12 | First Pass | NC_000013.11 | Chr13 | 84,343,547 | - | 84,351,341 |
| nssv4080 | Remapped | Perfect | NC_000013.10:g.(84 903856_?)_(?_84928 345)ins11773 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 84,903,856 | - | 84,928,345 |
| nssv9999 | Remapped | Perfect | NC_000013.10:g.(84 907423_?)_(?_84937 482)ins8051 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 84,907,423 | - | 84,937,482 |
| nssv5484 | Remapped | Perfect | NC_000013.10:g.(84 908036_?)_(?_84922 563)ins9586 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 84,908,036 | - | 84,922,563 |
| nssv9499 | Remapped | Perfect | NC_000013.10:g.(84 913859_?)_(?_84920 740)ins13820 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 84,913,859 | - | 84,920,740 |
| nssv1157 | Remapped | Perfect | NC_000013.10:g.(84 916331_?)_(?_84924 558)ins9312 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 84,916,331 | - | 84,924,558 |
| nssv2046 | Remapped | Perfect | NC_000013.10:g.(84 917091_?)_(?_84933 946)ins9608 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 84,917,091 | - | 84,933,946 |
| nssv6571 | Remapped | Perfect | NC_000013.10:g.(84 917682_?)_(?_84925 476)ins9855 | GRCh37.p13 | First Pass | NC_000013.10 | Chr13 | 84,917,682 | - | 84,925,476 |
| nssv4080 | Submitted genomic | NC_000013.9:g.(838 01857_?)_(?_838263 46)ins11773 | NCBI35 (hg17) | NC_000013.9 | Chr13 | 83,801,857 | - | 83,826,346 | ||
| nssv9999 | Submitted genomic | NC_000013.9:g.(838 05424_?)_(?_838354 83)ins8051 | NCBI35 (hg17) | NC_000013.9 | Chr13 | 83,805,424 | - | 83,835,483 | ||
| nssv5484 | Submitted genomic | NC_000013.9:g.(838 06037_?)_(?_838205 64)ins9586 | NCBI35 (hg17) | NC_000013.9 | Chr13 | 83,806,037 | - | 83,820,564 | ||
| nssv9499 | Submitted genomic | NC_000013.9:g.(838 11860_?)_(?_838187 41)ins13820 | NCBI35 (hg17) | NC_000013.9 | Chr13 | 83,811,860 | - | 83,818,741 | ||
| nssv1157 | Submitted genomic | NC_000013.9:g.(838 14332_?)_(?_838225 59)ins9312 | NCBI35 (hg17) | NC_000013.9 | Chr13 | 83,814,332 | - | 83,822,559 | ||
| nssv2046 | Submitted genomic | NC_000013.9:g.(838 15092_?)_(?_838319 47)ins9608 | NCBI35 (hg17) | NC_000013.9 | Chr13 | 83,815,092 | - | 83,831,947 | ||
| nssv6571 | Submitted genomic | NC_000013.9:g.(838 15683_?)_(?_838234 77)ins9855 | NCBI35 (hg17) | NC_000013.9 | Chr13 | 83,815,683 | - | 83,823,477 |
Validation Information
| Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
|---|---|---|---|---|---|
| nssv9999 | 3 | NA18956 | Multiple complete digestion | MCD analysis | Pass |
| nssv6571 | 4 | NA12156 | Sequencing | One end anchored assembly | Pass |
| nssv4080 | 4 | NA12878 | Sequencing | One end anchored assembly | Pass |
| nssv9499 | 4 | NA18507 | Sequencing | One end anchored assembly | Pass |
| nssv2046 | 4 | NA18555 | Sequencing | One end anchored assembly | Pass |
| nssv9999 | 4 | NA18956 | Sequencing | One end anchored assembly | Pass |
| nssv5484 | 4 | NA19129 | Sequencing | One end anchored assembly | Pass |
| nssv1157 | 4 | NA19240 | Sequencing | One end anchored assembly | Pass |