A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579654



Internal ID16367063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42781975..43035037hg38UCSC Ensembl
Innerchr19:43286127..43539189hg19UCSC Ensembl
Innerchr19:47977967..48231029hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38253063
hg19253063
hg18253063
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6465n54
Supporting Variantsnssv899634, nssv899632, nssv899633
Samples
Known GenesLOC100289650, PSG1, PSG10P, PSG11, PSG6, PSG7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv579654
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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