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nsv3924706

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:80,120,014
  • Description:GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 213752 SVs from 141 studies. See in: genome view    
Submitted genomic136,227-80,256,240Question Mark
Overlapping variant regions from other studies: 213513 SVs from 141 studies. See in: genome view    
Submitted genomic136,227-78,014,123Question Mark
Overlapping variant regions from other studies: 54201 SVs from 41 studies. See in: genome view    
Submitted genomic126,227-76,115,097Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3924706Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000018.10Chr18136,22780,256,240
nsv3924706Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000018.9Chr18136,22778,014,123
nsv3924706Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000018.8Chr18126,22776,115,097

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15148196copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000142244.5, VCV000154106.23

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15148196Submitted genomicNC_000018.10:g.(?_
136227)_(80256240_
?)dup
GRCh38 (hg38)NC_000018.10Chr18136,22780,256,240
nssv15148196Submitted genomicNC_000018.9:g.(?_1
36227)_(78014123_?
)dup
GRCh37 (hg19)NC_000018.9Chr18136,22778,014,123
nssv15148196Submitted genomicNC_000018.8:g.(?_1
26227)_(76115097_?
)dup
NCBI36 (hg18)NC_000018.8Chr18126,22776,115,097

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15148196GRCh37: NC_000018.9:g.(?_136227)_(78014123_?)dup, GRCh38: NC_000018.10:g.(?_136227)_(80256240_?)dup, NCBI36: NC_000018.8:g.(?_126227)_(76115097_?)dupcopy number gainsee ClinVar for detailsSee casesPathogenicClinVarRCV000142244.5, VCV000154106.23

No genotype data were submitted for this variant

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