A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5448595



Internal ID226865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43833663..43833963hg38UCSC Ensembl
chr2:44060802..44061102hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911979
Samples
Known GenesABCG5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5448595
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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