A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv523803



Internal ID15104410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176228248..176305440hg38UCSC Ensembl
Innerchr2:177092976..177170168hg19UCSC Ensembl
Innerchr2:176801222..176878414hg18UCSC Ensembl
Innerchr2:176918483..176995675hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3877193
hg1977193
hg1877193
hg1777193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv699632
Samples
Known GenesMTX2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv523803
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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