A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699185



Internal ID15435837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:94116693..94125925hg38UCSC Ensembl
Innerchr1:94582249..94591481hg19UCSC Ensembl
Innerchr1:94354837..94364069hg18UCSC Ensembl
Innerchr1:94294270..94303502hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg389233
hg199233
hg189233
hg179233
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523430
Supporting Variants
Samples
Known GenesABCA4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699185
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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