A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701005



Internal ID15090971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94010999..94011049hg38UCSC Ensembl
Innerchr1:94476555..94476605hg19UCSC Ensembl
Innerchr1:94249143..94249193hg18UCSC Ensembl
Innerchr1:94188576..94188626hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
hg1751
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516137
Supporting Variants
Samples
Known GenesABCA4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701005
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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