A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv697627



Internal ID15434279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:44891349..44896725hg38UCSC Ensembl
Innerchr21:46311264..46316640hg19UCSC Ensembl
Innerchr21:45135692..45141068hg18UCSC Ensembl
Innerchr21:45135692..45141068hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385377
hg195377
hg185377
hg175377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516593
Supporting Variants
Samples
Known GenesITGB2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv697627
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