A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17403268



Internal ID22461138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130628722..130634263hg38UCSC Ensembl
chr3:130347566..130353107hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385542
hg195542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5895663
Supporting Variants
Samples
Known GenesCOL6A6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17403268
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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