A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6347516



Internal ID21005069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:171143469..171145203hg38UCSC Ensembl
chr2:171999979..172001713hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381735
hg191735
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18080367
Samples
Known GenesTLK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6347516
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