A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6476910



Internal ID21134463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120231085..120242237hg38UCSC Ensembl
chr12:120668888..120680040hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3811153
hg1911153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17997422
Samples
Known GenesPXN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6476910
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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