A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463504



Internal ID21121057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:82732513..82735452hg38UCSC Ensembl
chr12:83126292..83129231hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg382940
hg192940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18004705
Samples
Known GenesTMTC2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463504
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