A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702314



Internal ID15438966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40196314..40224584hg38UCSC Ensembl
Innerchr2:40423454..40451724hg19UCSC Ensembl
Innerchr2:40276958..40305228hg18UCSC Ensembl
Innerchr2:40335105..40363375hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3828271
hg1928271
hg1828271
hg1728271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526074
Supporting Variants
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702314
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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