A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5940830



Internal ID22716244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67471402..67472842hg38UCSC Ensembl
chr16:67505305..67506745hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg381441
hg191441
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17371880
Samples
Known GenesATP6V0D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5940830
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer