A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703543



Internal ID15440195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:231985093..232113504hg38UCSC Ensembl
Innerchr2:232849803..232978214hg19UCSC Ensembl
Innerchr2:232558047..232686458hg18UCSC Ensembl
Innerchr2:232675308..232803719hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38128412
hg19128412
hg18128412
hg17128412
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527152
Supporting Variants
Samples
Known GenesDIS3L2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703543
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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