A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv581754



Internal ID16369163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:47086485..47221726hg38UCSC Ensembl
Innerchr2:47313624..47448865hg19UCSC Ensembl
Innerchr2:47167128..47302369hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38135242
hg19135242
hg18135242
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv908105
Samples
Known GenesC2orf61, CALM2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv581754
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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