A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18002140



Internal ID20569180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:51264796..51265889hg38UCSC Ensembl
chr12:51658580..51659673hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg381094
hg191094
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457982
Supporting Variants
Samples
Known GenesSMAGP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18002140
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