A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371962



Internal ID22597631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:38800259..38804562hg38UCSC Ensembl
chr13:39374396..39378699hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384304
hg194304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946164
Supporting Variants
Samples
Known GenesFREM2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371962
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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