A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473847



Internal ID21131400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:53488256..53488856hg38UCSC Ensembl
chr12:53882040..53882640hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18001460
Samples
Known GenesMAP3K12
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473847
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