A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974468



Internal ID50349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140297954..140298069hg38UCSC Ensembl
chr5:139677539..139677654hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5459684
Supporting Variants
Samples
Known GenesPFDN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974468
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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