A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv998532



Internal ID19158068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:214593909..214631740hg38UCSC Ensembl
Innerchr2:215458633..215496464hg19UCSC Ensembl
Innerchr2:215166878..215204709hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg3837832
hg1937832
hg1837832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4171n100
Supporting Variantsnssv3585681, nssv3585680, nssv3585679
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)nsv998532
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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