A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583013



Internal ID16023736
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:126659476..126663815hg38UCSC Ensembl
Innerchr2:127417052..127421391hg19UCSC Ensembl
Innerchr2:127133522..127137861hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg384340
hg194340
hg184340
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv918050
Samples
Known GenesGYPC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583013
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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