A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17485257



Internal ID22543168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:31387349..31446696hg38UCSC Ensembl
chr20:29975152..30034499hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3859348
hg1959348
Variant TypeOTHER copy number variation
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5881750
Supporting Variants
Samples
Known GenesDEFB119, DEFB121, DEFB122, DEFB123
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17485257
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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