A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700954



Internal ID15437606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:101473276..101636042hg38UCSC Ensembl
Innerchr2:102089738..102252504hg19UCSC Ensembl
Innerchr2:101456170..101618936hg18UCSC Ensembl
Innerchr2:101548256..101711022hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38162767
hg19162767
hg18162767
hg17162767
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524940
Supporting Variants
Samples
Known GenesRFX8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700954
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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