A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18077590



Internal ID20644630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:134129966..134139296hg38UCSC Ensembl
chr2:134887537..134896867hg19UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg389331
hg199331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6350646
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18077590
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer