A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003122



Internal ID19092339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:21600126..21629728hg38UCSC Ensembl
Innerchr2:21822998..21852600hg19UCSC Ensembl
Innerchr2:21676503..21706105hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3829603
hg1929603
hg1829603
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3740n100
Supporting Variantsnssv3579006, nssv3579005, nssv3579007
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003122
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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