A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16974585



Internal ID50434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:141095766..141095766hg38UCSC Ensembl
chr5:140475350..140475350hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5537347
Supporting Variants
Samples
Known GenesPCDHB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16974585
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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