A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515464



Internal ID291944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:84396412..84398140hg38UCSC Ensembl
chr16:84430018..84431746hg19UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg381729
hg191729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17708311
Samples
Known GenesATP2C2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515464
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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