A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6378252



Internal ID21035805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:691725..1036472hg38UCSC Ensembl
chr5:691840..1036587hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38344748
hg19344748
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18214871
Samples
Known GenesBRD9, LOC100506688, NKD2, TPPP, TRIP13, ZDHHC11
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6378252
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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