A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3573769



Internal ID18525364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43304322..43590925hg38UCSC Ensembl
Innerchr19:43808474..44095077hg19UCSC Ensembl
Innerchr19:48500314..48786917hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38286604
hg19286604
hg18286604
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1056721
Supporting Variants
Samples
Known GenesCD177, ETHE1, IRGQ, LYPD3, PHLDB3, PINLYP, PRG1, TEX101, XRCC1, ZNF575
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3573769
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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