A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608472



Internal ID16049195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:139724223..139954457hg38UCSC Ensembl
Innerchr7:139424022..139654256hg19UCSC Ensembl
Innerchr7:139070502..139300725hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38230235
hg19230235
hg18230224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156028
Samples1780854338_A
Known GenesHIPK2, TBXAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608472
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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