A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433971



Internal ID212665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39740675..39740732hg38UCSC Ensembl
chr2:39967815..39967872hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16911506
Samples
Known GenesTHUMPD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433971
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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