A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705511



Internal ID15442163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:217849963..217855319hg38UCSC Ensembl
Innerchr2:218714686..218720042hg19UCSC Ensembl
Innerchr2:218422931..218428287hg18UCSC Ensembl
Innerchr2:218540192..218545548hg17UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg385357
hg195357
hg185357
hg175357
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528835
Supporting Variants
Samples
Known GenesTNS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705511
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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