A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917556



Internal ID12450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:98808497..98808610hg38UCSC Ensembl
chr2:99424960..99425073hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447733
Supporting Variants
Samples
Known GenesKIAA1211L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917556
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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