A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6465800



Internal ID21123353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6088478..6144986hg38UCSC Ensembl
chr12:6197644..6254152hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3856509
hg1956509
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179531
Samples
Known GenesVWF
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6465800
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