A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16977231



Internal ID52214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176354835..176355901hg38UCSC Ensembl
chr5:175781838..175782904hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg381067
hg191067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461246
Supporting Variants
Samples
Known GenesKIAA1191
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16977231
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