A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3571688



Internal ID18869969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43002022..43249346hg38UCSC Ensembl
Innerchr19:43506174..43753498hg19UCSC Ensembl
Innerchr19:48198014..48445338hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38247325
hg19247325
hg18247325
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066555
Supporting Variants
Samples
Known GenesLOC284344, PSG11, PSG2, PSG4, PSG5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3571688
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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