A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6340478



Internal ID20998031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:104332527..104334020hg38UCSC Ensembl
chr2:104948985..104950478hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381494
hg191494
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18076592
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6340478
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