A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704240



Internal ID15440892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:16869755..16998686hg38UCSC Ensembl
Innerchr21:18242075..18371006hg19UCSC Ensembl
Innerchr21:17163946..17292877hg18UCSC Ensembl
Innerchr21:17163946..17292877hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38128932
hg19128932
hg18128932
hg17128932
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527753
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704240
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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