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nsv918102

  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:80,245,632

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 183118 SVs from 133 studies. See in: genome view    
Remapped(Score: Pass):11,543-80,257,174Question Mark
Overlapping variant regions from other studies: 182925 SVs from 133 studies. See in: genome view    
Remapped(Score: Good):11,543-78,015,057Question Mark
Overlapping variant regions from other studies: 61147 SVs from 44 studies. See in: genome view    
Submitted genomic1,543-76,116,029Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv918102RemappedPassGRCh38.p12Primary AssemblyFirst PassNC_000018.10Chr1811,54380,257,174
nsv918102RemappedGoodGRCh37.p13Primary AssemblyFirst PassNC_000018.9Chr1811,54378,015,057
nsv918102Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000018.8Chr181,54376,116,029

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationCopy number
nssv1606083copy number gainISCA_ID_pn_1756Oligo aCGHProbe signal intensityIncreased nuchal translucencyPathogenicSubmitter3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv1606083RemappedPassNC_000018.10:g.(?_
11543)_(80257174_?
)dup
GRCh38.p12First PassNC_000018.10Chr1811,54380,257,174
nssv1606083RemappedGoodNC_000018.9:g.(?_1
1543)_(78015057_?)
dup
GRCh37.p13First PassNC_000018.9Chr1811,54378,015,057
nssv1606083Submitted genomicNC_000018.8:g.(?_1
543)_(76116029_?)d
up
NCBI36 (hg18)NC_000018.8Chr181,54376,116,029

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv16060833ISCA_ID_pn_1756KaryotypingManual observationPass

Clinical Assertions

Variant Call IDSample IDHGVSTypeSubject PhenotypeClinical InterpretationSource of InterpretationGenderAgeCopy number
nssv1606083ISCA_ID_pn_1756NCBI36: NC_000018.8:g.(?_1543)_(76116029_?)dupcopy number gainIncreased nuchal translucencyPathogenicSubmitterMale12 weeks gestation3

No genotype data were submitted for this variant

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