A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv654264



Internal ID15390916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121088967..121117161hg38UCSC Ensembl
Innerchr5:120424662..120452856hg19UCSC Ensembl
Innerchr5:120452561..120480755hg18UCSC Ensembl
Innerchr5:120452561..120480755hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3828195
hg1928195
hg1828195
hg1728195
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)nssv654264
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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