A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6394982



Internal ID21052535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31835532..31869456hg38UCSC Ensembl
chr5:31835639..31869562hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3833925
hg1933924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18130904
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6394982
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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