A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3655638



Internal ID18953919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70277452..70414245hg38UCSC Ensembl
Innerchr7:69742438..69879231hg19UCSC Ensembl
Innerchr7:69380374..69517167hg18UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg38136794
hg19136794
hg18136794
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028870
Supporting Variants
Samples
Known GenesAUTS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3655638
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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