A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003317



Internal ID19092536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:139765163..139812234hg38UCSC Ensembl
Innerchr2:140522732..140569803hg19UCSC Ensembl
Innerchr2:140239202..140286273hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3847072
hg1947072
hg1847072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582804
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)nsv1003317
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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