A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684507



Internal ID15074473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40373074..40383482hg38UCSC Ensembl
Innerchr21:41745001..41755409hg19UCSC Ensembl
Innerchr21:40666871..40677279hg18UCSC Ensembl
Innerchr21:40666871..40677279hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg3810409
hg1910409
hg1810409
hg1710409
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520586
Supporting Variants
Samples
Known GenesDSCAM, DSCAM-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684507
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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