A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969607



Internal ID47053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:123854745..123923000hg38UCSC Ensembl
chr6:124175890..124244145hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3868256
hg1968256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5464835
Supporting Variants
Samples
Known GenesNKAIN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969607
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