A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705190



Internal ID15095156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71383799..71471442hg38UCSC Ensembl
Innerchr5:70679626..70767269hg19UCSC Ensembl
Innerchr5:70715382..70803025hg18UCSC Ensembl
Innerchr5:70715382..70803025hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3887644
hg1987644
hg1887644
hg1787644
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528571
Supporting Variants
Samples
Known GenesBDP1, PMCHL2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705190
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