A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008917



Internal ID19098135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:192320619..192415588hg38UCSC Ensembl
Innerchr2:193185345..193280314hg19UCSC Ensembl
Innerchr2:192893590..192988559hg18UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3894970
hg1994970
hg1894970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583898
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)nsv1008917
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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