A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506082



Internal ID20879357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41980125..41981272hg38UCSC Ensembl
chr17:40132143..40133290hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381148
hg191148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185648
Samples
Known GenesDNAJC7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506082
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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