A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703510



Internal ID15440162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:19478684..19496121hg38UCSC Ensembl
Innerchr20:19459328..19476765hg19UCSC Ensembl
Innerchr20:19407328..19424765hg18UCSC Ensembl
Innerchr20:19407328..19424765hg17UCSC Ensembl
Cytoband20p11.23
Allele length
AssemblyAllele length
hg3817438
hg1917438
hg1817438
hg1717438
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527125
Supporting Variants
Samples
Known GenesSLC24A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703510
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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