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nsv7095725

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:4,332
  • Description:NC_000019.9:g.(?_54622530)_(54626860_?)del AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 82 SVs from 24 studies. See in: genome view    
Remapped(Score: Good):54,119,150-54,123,481Question Mark
Overlapping variant regions from other studies: 28 SVs from 10 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 35 SVs from 13 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 32 SVs from 12 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 33 SVs from 13 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 36 SVs from 14 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 33 SVs from 13 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 32 SVs from 12 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 33 SVs from 12 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 36 SVs from 14 studies. See in: genome view    
Remapped(Score: Perfect):93,643-97,973Question Mark
Overlapping variant regions from other studies: 60 SVs from 15 studies. See in: genome view    
Submitted genomic54,622,530-54,626,860Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv7095725RemappedGoodGRCh38.p12Primary AssemblySecond PassNC_000019.10Chr1954,119,15054,123,481
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_9Second PassNT_187693.1Chr19|NT_1
87693.1
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_8Second PassNW_003571061.2Chr19|NW_0
03571061.2
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_5Second PassNW_003571058.2Chr19|NW_0
03571058.2
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_4Second PassNW_003571057.2Chr19|NW_0
03571057.2
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_7Second PassNW_003571060.1Chr19|NW_0
03571060.1
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_6Second PassNW_003571059.2Chr19|NW_0
03571059.2
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_3Second PassNW_003571056.2Chr19|NW_0
03571056.2
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_2First PassNW_003571055.2Chr19|NW_0
03571055.2
93,64397,973
nsv7095725RemappedPerfectGRCh38.p12ALT_REF_LOCI_1Second PassNW_003571054.1Chr19|NW_0
03571054.1
93,64397,973
nsv7095725Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000019.9Chr1954,622,53054,626,860

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18786789deletionMultipleMultiplenot providedPathogenicClinVarRCV003119638.2, VCV002426200.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv18786789RemappedPerfectNT_187693.1:g.(?_9
3643)_(97973_?)del
GRCh38.p12Second PassNT_187693.1Chr19|NT_1
87693.1
93,64397,973
nssv18786789RemappedPerfectNW_003571061.2:g.(
?_93643)_(97973_?)
del
GRCh38.p12Second PassNW_003571061.2Chr19|NW_0
03571061.2
93,64397,973
nssv18786789RemappedPerfectNW_003571057.2:g.(
?_93643)_(97973_?)
del
GRCh38.p12Second PassNW_003571057.2Chr19|NW_0
03571057.2
93,64397,973
nssv18786789RemappedPerfectNW_003571058.2:g.(
?_93643)_(97973_?)
del
GRCh38.p12Second PassNW_003571058.2Chr19|NW_0
03571058.2
93,64397,973
nssv18786789RemappedPerfectNW_003571059.2:g.(
?_93643)_(97973_?)
del
GRCh38.p12Second PassNW_003571059.2Chr19|NW_0
03571059.2
93,64397,973
nssv18786789RemappedPerfectNW_003571060.1:g.(
?_93643)_(97973_?)
del
GRCh38.p12Second PassNW_003571060.1Chr19|NW_0
03571060.1
93,64397,973
nssv18786789RemappedPerfectNW_003571056.2:g.(
?_93643)_(97973_?)
del
GRCh38.p12Second PassNW_003571056.2Chr19|NW_0
03571056.2
93,64397,973
nssv18786789RemappedPerfectNW_003571055.2:g.(
?_93643)_(97973_?)
del
GRCh38.p12First PassNW_003571055.2Chr19|NW_0
03571055.2
93,64397,973
nssv18786789RemappedPerfectNW_003571054.1:g.(
?_93643)_(97973_?)
del
GRCh38.p12Second PassNW_003571054.1Chr19|NW_0
03571054.1
93,64397,973
nssv18786789RemappedGoodNC_000019.10:g.(?_
54119150)_(5412348
1_?)del
GRCh38.p12Second PassNC_000019.10Chr1954,119,15054,123,481
nssv18786789Submitted genomicNC_000019.9:g.(?_5
4622530)_(54626860
_?)del
GRCh37 (hg19)NC_000019.9Chr1954,622,53054,626,860

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18786789GRCh37: NC_000019.9:g.(?_54622530)_(54626860_?)deldeletiongermlinenot providedPathogenicClinVarRCV003119638.2, VCV002426200.3

No genotype data were submitted for this variant

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