A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16927081



Internal ID18765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238179491..238180586hg38UCSC Ensembl
chr2:239088132..239089227hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5450892
Supporting Variants
Samples
Known GenesILKAP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16927081
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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