A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699452



Internal ID15089418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:56026162..56195679hg38UCSC Ensembl
Innerchr19:56537528..56707048hg19UCSC Ensembl
Innerchr19:61229340..61398860hg18UCSC Ensembl
Innerchr19:61229340..61398860hg17UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38169518
hg19169521
hg18169521
hg17169521
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523651
Supporting Variants
Samples
Known GenesGALP, NLRP5, ZNF444, ZNF787, ZSCAN5B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699452
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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