A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693424



Internal ID15083390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:8330828..8335500hg38UCSC Ensembl
Innerchr1:8390888..8395560hg19UCSC Ensembl
Innerchr1:8313475..8318147hg18UCSC Ensembl
Innerchr1:8325154..8329826hg17UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg384673
hg194673
hg184673
hg174673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516827
Supporting Variants
Samples
Known GenesSLC45A1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693424
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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