A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473224



Internal ID21130777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:43444001..43444900hg38UCSC Ensembl
chr12:43837804..43838703hg19UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg38900
hg19900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18000602
Samples
Known GenesADAMTS20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473224
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