A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv698531



Internal ID15435183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:70585456..70606993hg38UCSC Ensembl
Innerchr7:70050442..70071979hg19UCSC Ensembl
Innerchr7:69688378..69709915hg18UCSC Ensembl
Innerchr7:69495093..69516630hg17UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg3821538
hg1921538
hg1821538
hg1721538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522876
Supporting Variants
Samples
Known GenesAUTS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv698531
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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