A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439723



Internal ID218255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:46441239..46513224hg38UCSC Ensembl
chr2:46668378..46740363hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3871986
hg1971986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16913638
Samples
Known GenesATP6V1E2, LOC101805491, TMEM247
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439723
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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