A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592946



Internal ID16380355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:193418687..193426029hg38UCSC Ensembl
Innerchr3:193136476..193143818hg19UCSC Ensembl
Innerchr3:194619170..194626512hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg387343
hg197343
hg187343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8819n54
Supporting Variantsnssv985723, nssv985724
Samples
Known GenesATP13A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592946
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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