A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18216179



Internal ID20783219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31857611..31869018hg38UCSC Ensembl
chr5:31857717..31869124hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3811408
hg1911408
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6390195
Supporting Variants
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18216179
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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