A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17734280



Internal ID157946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:21008081..21033817hg38UCSC Ensembl
chr21:22380398..22406135hg19UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3825737
hg1925738
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5527295
Supporting Variants
Samples
Known GenesNCAM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17734280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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