A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700074



Internal ID15436726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105746015..105750113hg38UCSC Ensembl
Innerchr7:105386461..105390559hg19UCSC Ensembl
Innerchr7:105173697..105177795hg18UCSC Ensembl
Innerchr7:104980412..104984510hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg384099
hg194099
hg184099
hg174099
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524191
Supporting Variants
Samples
Known GenesATXN7L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700074
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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