A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv682136



Internal ID15418788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:194617172..194633146hg38UCSC Ensembl
Innerchr3:194337901..194353875hg19UCSC Ensembl
Innerchr3:195819190..195835164hg18UCSC Ensembl
Innerchr3:195819198..195835172hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3815975
hg1915975
hg1815975
hg1715975
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517166
Supporting Variants
Samples
Known GenesTMEM44
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv682136
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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