A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3724533



Internal ID18676128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38405604..38455211hg38UCSC Ensembl
Innerchr19:38896244..38945851hg19UCSC Ensembl
Innerchr19:43588084..43637691hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3849608
hg1949608
hg1849608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1055309
Supporting Variants
Samples
Known GenesFAM98C, RASGRP4, RYR1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3724533
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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