A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv703339



Internal ID15439991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:165253124..165253362hg38UCSC Ensembl
Innerchr2:166109634..166109872hg19UCSC Ensembl
Innerchr2:165817880..165818118hg18UCSC Ensembl
Innerchr2:165935141..165935379hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38239
hg19239
hg18239
hg17239
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526967
Supporting Variants
Samples
Known GenesSCN2A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv703339
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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