A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv674808



Internal ID15411460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121052861..121053415hg38UCSC Ensembl
Innerchr5:120388556..120389110hg19UCSC Ensembl
Innerchr5:120416455..120417009hg18UCSC Ensembl
Innerchr5:120416455..120417009hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38555
hg19555
hg18555
hg17555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517000
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv674808
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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