A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17373724



Internal ID22599393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49314430..49317140hg38UCSC Ensembl
chr13:49888566..49891276hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382711
hg192711
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5943176
Supporting Variants
Samples
Known GenesCAB39L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17373724
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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