A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686841



Internal ID15423493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98245634..98255576hg38UCSC Ensembl
Innerchr2:98862097..98872039hg19UCSC Ensembl
Innerchr2:98228529..98238471hg18UCSC Ensembl
Innerchr2:98320615..98330557hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg389943
hg199943
hg189943
hg179943
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517669
Supporting Variants
Samples
Known GenesVWA3B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686841
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