A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579643



Internal ID16367052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42767839..42864809hg38UCSC Ensembl
Innerchr19:43271991..43368961hg19UCSC Ensembl
Innerchr19:47963831..48060801hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3896971
hg1996971
hg1896971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6461n54
Supporting Variantsnssv899619, nssv899618, nssv899617
Samples
Known GenesLOC100289650, PSG10P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579643
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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