A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582808



Internal ID16023531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:121573899..122358430hg38UCSC Ensembl
Innerchr2:122331475..123116006hg19UCSC Ensembl
Innerchr2:122047945..122832476hg18UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38784532
hg19784532
hg18784532
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150499
Samples1780862075_A
Known GenesCLASP1, NIFK, NIFK-AS1, TSN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582808
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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