A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928554



Internal ID19753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:231131481..231131786hg38UCSC Ensembl
chr2:231996195..231996500hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445466
Supporting Variants
Samples
Known GenesPSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928554
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.58695


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