A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16946247



Internal ID31524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:20765415..20766933hg38UCSC Ensembl
chr4:20767038..20768556hg19UCSC Ensembl
Cytoband4p15.31
Allele length
AssemblyAllele length
hg381519
hg191519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434515
Supporting Variants
Samples
Known GenesKCNIP4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16946247
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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