A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv684758



Internal ID15074724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:14248477..14288218hg38UCSC Ensembl
Innerchr21:15620798..15660539hg19UCSC Ensembl
Innerchr21:14542669..14582410hg18UCSC Ensembl
Innerchr21:14542669..14582410hg17UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3839742
hg1939742
hg1839742
hg1739742
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520538
Supporting Variants
Samples
Known GenesABCC13
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv684758
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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