A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912020



Internal ID8766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:29699628..29714937hg38UCSC Ensembl
chr2:29922494..29937803hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3815310
hg1915310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5439910
Supporting Variants
Samples
Known GenesALK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912020
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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