A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv699144



Internal ID15435796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:229266936..229332546hg38UCSC Ensembl
Innerchr2:230131652..230197262hg19UCSC Ensembl
Innerchr2:229839896..229905506hg18UCSC Ensembl
Innerchr2:229957157..230022767hg17UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3865611
hg1965611
hg1865611
hg1765611
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv523394
Supporting Variants
Samples
Known GenesPID1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv699144
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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