A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3580705



Internal ID18878986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123058750..123129634hg38UCSC Ensembl
Innerchr2:123816326..123887210hg19UCSC Ensembl
Innerchr2:123532796..123603680hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3870885
hg1970885
hg1870885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010200
Supporting Variants
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)nssv3580705
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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