A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662906



Internal ID15399558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:130413013..130413665hg38UCSC Ensembl
Innerchr3:130131857..130132509hg19UCSC Ensembl
Innerchr3:131614547..131615199hg18UCSC Ensembl
Innerchr3:131614555..131615207hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg38653
hg19653
hg18653
hg17653
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515803
Supporting Variants
Samples
Known GenesCOL6A5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662906
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