A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5445466



Internal ID223813
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 StatusM
Merged Variants
Supporting Variantsnssv16928554
Samples
Known GenesPSMD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5445466
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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