A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384653



Internal ID22442523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48731596..48731659hg38UCSC Ensembl
chr13:49305732..49305795hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5940033
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384653
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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