A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519952



Internal ID15447245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:43197984..43209027hg38UCSC Ensembl
Innerchr7:43237583..43248626hg19UCSC Ensembl
Innerchr7:43204108..43215151hg18UCSC Ensembl
Innerchr7:43010823..43021866hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3811044
hg1911044
hg1811044
hg1711044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697143
Samples
Known GenesHECW1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519952
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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