A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996715



Internal ID20563756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100853201..100854500hg38UCSC Ensembl
chr12:101246979..101248278hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381300
hg191300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6459701
Supporting Variants
Samples
Known GenesANO4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996715
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