A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700650



Internal ID15090616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:42350030..42576225hg38UCSC Ensembl
Innerchr2:42577170..42803365hg19UCSC Ensembl
Innerchr2:42430674..42656869hg18UCSC Ensembl
Innerchr2:42488821..42715016hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38226196
hg19226196
hg18226196
hg17226196
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524679
Supporting Variants
Samples
Known GenesCOX7A2L, KCNG3, MTA3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700650
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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