A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702727



Internal ID15439379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:40191246..40220447hg38UCSC Ensembl
Innerchr2:40418386..40447587hg19UCSC Ensembl
Innerchr2:40271890..40301091hg18UCSC Ensembl
Innerchr2:40330037..40359238hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3829202
hg1929202
hg1829202
hg1729202
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526425
Supporting Variants
Samples
Known GenesSLC8A1, SLC8A1-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702727
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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