A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524586



Internal ID15451879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40220447..40270361hg38UCSC Ensembl
Innerchr2:40447587..40497501hg19UCSC Ensembl
Innerchr2:40301091..40351005hg18UCSC Ensembl
Innerchr2:40359238..40409152hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3849915
hg1949915
hg1849915
hg1749915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700544
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524586
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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