A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv693635



Internal ID15083601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41864559..42365404hg38UCSC Ensembl
Innerchr19:42368629..42869556hg19UCSC Ensembl
Innerchr19:47060469..47561396hg18UCSC Ensembl
Innerchr19:47060469..47561396hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38500846
hg19500928
hg18500928
hg17500928
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520239
Supporting Variants
Samples
Known GenesARHGEF1, ATP1A3, CD79A, CIC, DEDD2, ERF, GRIK5, GSK3A, LOC100505622, MEGF8, MIR4323, MIR6797, MIR8077, PAFAH1B3, POU2F2, PRR19, RABAC1, RPS19, TMEM145, ZNF526, ZNF574
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv693635
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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