A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702243



Internal ID15092209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142864981..142944120hg38UCSC Ensembl
Innerchr7:142562736..142641207hg19UCSC Ensembl
Innerchr7:142272858..142351329hg18UCSC Ensembl
Innerchr7:142079573..142158044hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3879140
hg1978472
hg1878472
hg1778472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526015
Supporting Variants
Samples
Known GenesC7orf34, EPHB6, KEL, TRPV5, TRPV6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702243
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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