A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6385095



Internal ID21042648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31873649..31880222hg38UCSC Ensembl
chr5:31873755..31880328hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg386574
hg196574
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18216183
Samples
Known GenesPDZD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6385095
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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