A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443844



Internal ID22501714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:32812043..32885630hg38UCSC Ensembl
chr6:32779820..32853407hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3873588
hg1973588
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5887973
Supporting Variants
Samples
Known GenesHLA-DOB, PSMB8, PSMB9, TAP1, TAP2, TAPSAR1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443844
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.35


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