A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058162



Internal ID18800693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43342086..43550906hg38UCSC Ensembl
Innerchr19:43846238..44055058hg19UCSC Ensembl
Innerchr19:48538078..48746898hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38208821
hg19208821
hg18208821
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3603n100
Supporting Variantsnssv3724883
Samples
Known GenesCD177, ETHE1, LYPD3, PHLDB3, 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)nsv1058162
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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