A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687498



Internal ID15424150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:41340873..41349924hg38UCSC Ensembl
Innerchr20:39969513..39978564hg19UCSC Ensembl
Innerchr20:39402927..39411978hg18UCSC Ensembl
Innerchr20:39402927..39411978hg17UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg389052
hg199052
hg189052
hg179052
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516924
Supporting Variants
Samples
Known GenesLPIN3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687498
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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