A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17363252



Internal ID22588921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124929697..124930024hg38UCSC Ensembl
chr11:124799593..124799920hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5908364
Supporting Variants
Samples
Known GenesHEPACAM
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17363252
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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