A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv577020



Internal ID16017743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:56283696..57000592hg38UCSC Ensembl
Innerchr18:53950927..54667823hg19UCSC Ensembl
Innerchr18:52101925..52818821hg18UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38716897
hg19716897
hg18716897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv883731
Samples
Known GenesTXNL1, WDR7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv577020
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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