A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16920514



Internal ID14454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149575614..149575703hg38UCSC Ensembl
chr2:150432128..150432217hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5436774
Supporting Variants
Samples
Known GenesMMADHC
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16920514
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00359


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