A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704317



Internal ID15440969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217855319..217855948hg38UCSC Ensembl
Innerchr2:218720042..218720671hg19UCSC Ensembl
Innerchr2:218428287..218428916hg18UCSC Ensembl
Innerchr2:218545548..218546177hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38630
hg19630
hg18630
hg17630
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527822
Supporting Variants
Samples
Known GenesTNS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704317
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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