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nsv4685755

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1,188,175

Genome View

Select assembly:
Overlapping variant regions from other studies: 3768 SVs from 109 studies. See in: genome view    
Remapped(Score: Perfect):33,373,493-34,561,667Question Mark
Overlapping variant regions from other studies: 3768 SVs from 109 studies. See in: genome view    
Submitted genomic33,526,428-34,714,602Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4685755RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1233,373,49334,561,667
nsv4685755Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr1233,526,42834,714,602

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16216731copy number gainMultipleMultipleGlobal developmental delay; Global developmental delayUncertain significanceClinVarRCV001250491.1, VCV000973850.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16216731RemappedPerfectNC_000012.12:g.(?_
33373493)_(3456166
7_?)dup
GRCh38.p12First PassNC_000012.12Chr1233,373,49334,561,667
nssv16216731Submitted genomicNC_000012.11:g.(?_
33526428)_(3471460
2_?)dup
GRCh37 (hg19)NC_000012.11Chr1233,526,42834,714,602

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16216731GRCh37: NC_000012.11:g.(?_33526428)_(34714602_?)dupcopy number gainunknownGlobal developmental delay; Global developmental delayUncertain significanceClinVarRCV001250491.1, VCV000973850.13

No genotype data were submitted for this variant

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