A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6469723



Internal ID21127276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:64858467..64858757hg38UCSC Ensembl
chr12:65252247..65252537hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38291
hg19291
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18002333
Samples
Known GenesTBC1D30
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6469723
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