nsv995983

  • Study:nstd37 (ClinGen)
  • Variant Type:copy number variation
  • Method Type:SNP array
  • Submitted on:GRCh37 (hg19)
  • Variant Calls:1
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:1,230,658

Links to Other Resources

Genome View

Select assembly:
Overlapping variant regions from other studies: 1381 SVs from 38 studies. See in: genome view    
Remapped(Score: Perfect):30,958,352-32,189,009Question Mark
Overlapping variant regions from other studies: 1381 SVs from 38 studies. See in: genome view    
Submitted genomic30,815,868-32,046,525Question Mark
Overlapping variant regions from other studies: 829 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):30,935,410-32,166,067Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv995983RemappedPerfectGRCh38 (hg38)Primary AssemblyFirst PassNC_000008.11Chr830,958,35232,189,009
nsv995983Submitted genomicGRCh37 (hg19)NC_000008.10Chr830,815,86832,046,525
nsv995983RemappedPerfectNCBI36 (hg18)Primary AssemblyFirst PassNC_000008.9Chr830,935,41032,166,067

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinicalCopy number
nssv3397365copy number gainSNP arraySNP genotyping analysisDelayed gross motor developmentUncertain significance3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nssv3397365RemappedPerfectNC_000008.11:g.(?_30958352)_(32189009_?)dupGRCh38 (hg38)Primary AssemblyFirst PassNC_000008.11Chr830,958,35232,189,009
nssv3397365Submitted genomicNC_000008.10:g.(?_30815868)_(32046525_?)dupGRCh37 (hg19)NC_000008.10Chr830,815,86832,046,525
nssv3397365RemappedPerfectNC_000008.9:g.(?_30935410)_(32166067_?)dupNCBI36 (hg18)Primary AssemblyFirst PassNC_000008.9Chr830,935,41032,166,067

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv33973652Sample data available in dbGaPFISHManual observationPass

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationCopy number
nssv3397365NC_000008.10:g.(?_30815868)_(32046525_?)dupcopy number gainNot testedDelayed gross motor developmentUncertain significance3

There is no genotype information for this variant

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