A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17388351



Internal ID22446221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:67447622..67447713hg38UCSC Ensembl
chr16:67481525..67481616hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943349
Supporting Variants
Samples
Known GenesATP6V0D1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17388351
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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