A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373423



Internal ID22599092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57510220..57761586hg38UCSC Ensembl
chr18:55177452..55428818hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38251367
hg19251367
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5929756
Supporting Variants
Samples
Known GenesATP8B1, FECH, LOC100505549, NARS
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373423
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00


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