A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18130905



Internal ID20697945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31862238..31865735hg38UCSC Ensembl
chr5:31862344..31865841hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg383498
hg193498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6385499
Supporting Variants
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18130905
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00023


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