A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18207012



Internal ID20774052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:71086677..71090866hg38UCSC Ensembl
chr2:71313807..71317996hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384190
hg194190
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6341649
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18207012
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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