A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463187



Internal ID21120740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:48306001..48361000hg38UCSC Ensembl
chr12:48699784..48754783hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3855000
hg1955000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187523
Samples
Known GenesH1FNT, ZNF641
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463187
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer