A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705395



Internal ID15442047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:105677611..105705671hg38UCSC Ensembl
Innerchr7:105318058..105346117hg19UCSC Ensembl
Innerchr7:105105294..105133353hg18UCSC Ensembl
Innerchr7:104912009..104940068hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg3828061
hg1928060
hg1828060
hg1728060
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528739
Supporting Variants
Samples
Known GenesATXN7L1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705395
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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