A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18105057



Internal ID20672097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:99723987..99724529hg38UCSC Ensembl
chr3:99442831..99443373hg19UCSC Ensembl
Cytoband3q12.1
Allele length
AssemblyAllele length
hg38543
hg19543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6369275
Supporting Variants
Samples
Known GenesCOL8A1, MIR548G
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18105057
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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