A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16998319



Internal ID66426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72406086..72409065hg38UCSC Ensembl
chr7:71871071..71874050hg19UCSC Ensembl
Cytoband7q11.22
Allele length
AssemblyAllele length
hg382980
hg192980
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5493214
Supporting Variants
Samples
Known GenesCALN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16998319
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