A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185823



Internal ID20752863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:56875801..56880900hg38UCSC Ensembl
chr12:57269585..57274684hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6460012
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185823
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