A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115583



Internal ID19260489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:167835090..167839890hg38UCSC Ensembl
Outerchr2:168691600..168696400hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg384801
hg194801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977392
SamplesKWS2
Known GenesB3GALT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115583
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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