A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964148



Internal ID43414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31890679..31894761hg38UCSC Ensembl
chr5:31890785..31894867hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384083
hg194083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5469042
Supporting Variants
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964148
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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