A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917311



Internal ID12293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84975839..84981957hg38UCSC Ensembl
chr2:85202962..85209080hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg386119
hg196119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5434598
Supporting Variants
Samples
Known GenesKCMF1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917311
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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