A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704600



Internal ID15094566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:24689899..24695269hg38UCSC Ensembl
Innerchr13:25264037..25269407hg19UCSC Ensembl
Innerchr13:24162037..24167407hg18UCSC Ensembl
Innerchr13:24162037..24167407hg17UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg385371
hg195371
hg185371
hg175371
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528064
Supporting Variants
Samples
Known GenesATP12A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704600
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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