A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17402722



Internal ID22460592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:50741195..50744412hg38UCSC Ensembl
chr20:49357732..49360949hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg383218
hg193218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5961594
Supporting Variants
Samples
Known GenesPARD6B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17402722
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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