A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699131



Internal ID15089097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:143082..263921hg38UCSC Ensembl
Innerchr5:143197..264036hg19UCSC Ensembl
Innerchr5:196197..317036hg18UCSC Ensembl
Innerchr5:196197..317036hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38120840
hg19120840
hg18120840
hg17120840
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523382
Supporting Variants
Samples
Known GenesCCDC127, LRRC14B, PLEKHG4B, SDHA
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699131
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