A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697377



Internal ID15434029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:124381994..124383755hg38UCSC Ensembl
Innerchr5:123717687..123719448hg19UCSC Ensembl
Innerchr5:123745586..123747347hg18UCSC Ensembl
Innerchr5:123745586..123747347hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381762
hg191762
hg181762
hg171762
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520370
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697377
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