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nsv3905007

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:502,880
  • Description:GRCh37/hg19 10p11.23(chr10:29849273-30352152)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 1432 SVs from 68 studies. See in: genome view    
Remapped(Score: Perfect):29,560,344-30,063,223Question Mark
Overlapping variant regions from other studies: 1432 SVs from 68 studies. See in: genome view    
Submitted genomic29,849,273-30,352,152Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3905007RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000010.11Chr1029,560,34430,063,223
nsv3905007Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000010.10Chr1029,849,27330,352,152

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15141984copy number gainMultipleMultipleSee casesLikely benignClinVarRCV000510777.2, VCV000443114.23

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15141984RemappedPerfectNC_000010.11:g.(?_
29560344)_(3006322
3_?)dup
GRCh38.p12First PassNC_000010.11Chr1029,560,34430,063,223
nssv15141984Submitted genomicNC_000010.10:g.(?_
29849273)_(3035215
2_?)dup
GRCh37 (hg19)NC_000010.10Chr1029,849,27330,352,152

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15141984GRCh37: NC_000010.10:g.(?_29849273)_(30352152_?)dupcopy number gainmaternalSee casesLikely benignClinVarRCV000510777.2, VCV000443114.23

No genotype data were submitted for this variant

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