A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031971



Internal ID18774505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:119385956..120677299hg38UCSC Ensembl
Innerchr7:119026010..120317353hg19UCSC Ensembl
Innerchr7:118813246..120104589hg18UCSC Ensembl
Cytoband7q31.31
Allele length
AssemblyAllele length
hg381291344
hg191291344
hg181291344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3662073
Samples
Known GenesKCND2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031971
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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