A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482376



Internal ID21139929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:121977844..121978354hg38UCSC Ensembl
chr12:122415750..122416260hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18195034
Samples
Known GenesWDR66
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482376
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