A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705313



Internal ID15441965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:124588760..124625945hg38UCSC Ensembl
Innerchr2:125346337..125383522hg19UCSC Ensembl
Innerchr2:125062807..125099992hg18UCSC Ensembl
Innerchr2:125062567..125099752hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3837186
hg1937186
hg1837186
hg1737186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528674
Supporting Variants
Samples
Known GenesCNTNAP5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705313
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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