A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579509



Internal ID16020232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:39514000..39642798hg38UCSC Ensembl
Innerchr19:40004640..40133438hg19UCSC Ensembl
Innerchr19:44696480..44825278hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38128799
hg19128799
hg18128799
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv899260, nssv899259
Samples
Known GenesEID2, EID2B, LGALS13, LOC100129935, SELV
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579509
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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