A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581470



Internal ID16368879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36882138..37008181hg38UCSC Ensembl
Innerchr2:37109281..37235324hg19UCSC Ensembl
Innerchr2:36962785..37088828hg18UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38126044
hg19126044
hg18126044
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1151040
SamplesHGDP00476
Known GenesHEATR5B, STRN
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581470
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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