A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6421397



Internal ID21078950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56210801..56212700hg38UCSC Ensembl
chr8:57123360..57125259hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18226912
Samples
Known GenesCHCHD7, PLAG1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6421397
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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