A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027592



Internal ID19116811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:4249690..4361497hg38UCSC Ensembl
Innerchr7:4289322..4401128hg19UCSC Ensembl
Innerchr7:4255848..4367654hg18UCSC Ensembl
Cytoband7p22.2
Allele length
AssemblyAllele length
hg38111808
hg19111807
hg18111807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6232n100
Supporting Variantsnssv3655027
Samples
Known GenesSDK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027592
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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