A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv583663



Internal ID16371072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:172423104..172443028hg38UCSC Ensembl
Innerchr2:173287832..173307756hg19UCSC Ensembl
Innerchr2:172996078..173016002hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3819925
hg1919925
hg1819925
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7172n54
Supporting Variantsnssv925605
Samples
Known GenesITGA6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv583663
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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