A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3579557



Internal ID18531152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:96091359..96159625hg38UCSC Ensembl
Innerchr2:96757107..96825363hg19UCSC Ensembl
Innerchr2:96120834..96189090hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3868267
hg1968257
hg1868257
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1015000
Supporting Variants
Samples
Known GenesADRA2B, ASTL, DUSP2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3579557
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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