A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3664247



Internal ID18615842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139711605..139984244hg38UCSC Ensembl
Innerchr7:139411404..139684043hg19UCSC Ensembl
Innerchr7:139057890..139330512hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38272640
hg19272640
hg18272623
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1032711
Supporting Variants
Samples
Known GenesHIPK2, TBXAS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3664247
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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