A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694343



Internal ID15084309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:21018718..21439831hg38UCSC Ensembl
Innerchr5:21018827..21439940hg19UCSC Ensembl
Innerchr5:21054584..21475697hg18UCSC Ensembl
Innerchr5:21054584..21475697hg17UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg38421114
hg19421114
hg18421114
hg17421114
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519714
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694343
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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