A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6344941



Internal ID21002494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178787567..178793059hg38UCSC Ensembl
chr2:179652294..179657786hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg385493
hg195493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18082758
Samples
Known GenesTTN
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6344941
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