A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577978



Internal ID16018701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:294526..782854hg38UCSC Ensembl
Innerchr19:294526..782854hg19UCSC Ensembl
Innerchr19:245526..733854hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38488329
hg19488329
hg18488329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150336
SamplesHGDP01021
Known GenesBSG, C2CD4C, CDC34, FGF22, FSTL3, GZMM, HCN2, MADCAM1, MIER2, MISP, ODF3L2, PALM, POLRMT, PRSS57, RNF126, SHC2, THEG, TPGS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577978
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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