A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687243



Internal ID15077209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43001832..43191688hg38UCSC Ensembl
Innerchr19:43505984..43695840hg19UCSC Ensembl
Innerchr19:48197824..48387680hg18UCSC Ensembl
Innerchr19:48197824..48387680hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38189857
hg19189857
hg18189857
hg17189857
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516973
Supporting Variants
Samples
Known GenesPSG11, PSG2, PSG5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv687243
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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