A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv662017



Internal ID15051983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176038632..176108354hg38UCSC Ensembl
Innerchr2:176903360..176973082hg19UCSC Ensembl
Innerchr2:176611606..176681328hg18UCSC Ensembl
Innerchr2:176728867..176798589hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3869723
hg1969723
hg1869723
hg1769723
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520227
Supporting Variants
Samples
Known GenesEVX2, HOXD11, HOXD12, HOXD13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv662017
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