A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18105056



Internal ID20672096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99719613..99720267hg38UCSC Ensembl
chr3:99438457..99439111hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6367860
Supporting Variants
Samples
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18105056
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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