A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv695380



Internal ID15085346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176072106..176147850hg38UCSC Ensembl
Innerchr2:176936834..177012578hg19UCSC Ensembl
Innerchr2:176645080..176720824hg18UCSC Ensembl
Innerchr2:176762341..176838085hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3875745
hg1975745
hg1875745
hg1775745
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517968
Supporting Variants
Samples
Known GenesEVX2, HOXD10, HOXD11, HOXD12, HOXD13, HOXD8, HOXD9, HOXD-AS2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv695380
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