A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579723



Internal ID16367132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42870449..43155365hg38UCSC Ensembl
Innerchr19:43374601..43659517hg19UCSC Ensembl
Innerchr19:48066441..48351357hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38284917
hg19284917
hg18284917
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6474n54
Supporting Variantsnssv1149925, nssv899746
SamplesHGDP01246
Known GenesPSG1, PSG11, PSG2, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579723
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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