A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699294



Internal ID15089260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41174519..41196521hg38UCSC Ensembl
Innerchr19:41680424..41702426hg19UCSC Ensembl
Innerchr19:46372264..46394266hg18UCSC Ensembl
Innerchr19:46372264..46394266hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3822003
hg1922003
hg1822003
hg1722003
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523521
Supporting Variants
Samples
Known GenesCYP2S1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699294
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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