A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv607513



Internal ID16394922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:75708326..75752244hg38UCSC Ensembl
Innerchr7:75337644..75381562hg19UCSC Ensembl
Innerchr7:75175580..75219498hg18UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3843919
hg1943919
hg1843919
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11453n54
Supporting Variantsnssv1087861
Samples
Known GenesHIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv607513
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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