A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462273



Internal ID21119826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54503861..54514601hg38UCSC Ensembl
chr12:54897645..54908385hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3810741
hg1910741
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18183975
Samples
Known GenesNCKAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462273
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