A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909769



Internal ID7282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12249426..12260336hg38UCSC Ensembl
chr2:12389552..12400462hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3810911
hg1910911
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5441378
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909769
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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