A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351240



Internal ID22576909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110432499..110432499hg38UCSC Ensembl
chr13:111084846..111084846hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970607
Supporting Variants
Samples
Known GenesCOL4A2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351240
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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