A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17418424



Internal ID22476294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172986191..172986191hg38UCSC Ensembl
chr5:172413194..172413194hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38210
hg19210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967519
Supporting Variants
Samples
Known GenesATP6V0E1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17418424
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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