A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv696342



Internal ID15432994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:121255730..121373053hg38UCSC Ensembl
Innerchr5:120591425..120708748hg19UCSC Ensembl
Innerchr5:120619324..120736647hg18UCSC Ensembl
Innerchr5:120619324..120736647hg17UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg38117324
hg19117324
hg18117324
hg17117324
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv518883
Supporting Variants
Samples
Known GenesLOC102467226
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv696342
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer