A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520735



Internal ID15101342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142865498..142944120hg38UCSC Ensembl
Innerchr7:142563253..142641207hg19UCSC Ensembl
Innerchr7:142273375..142351329hg18UCSC Ensembl
Innerchr7:142080090..142158044hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3878623
hg1977955
hg1877955
hg1777955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv679629, nssv674860
Samples
Known GenesC7orf34, EPHB6, KEL, TRPV5, TRPV6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520735
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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