A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17997076



Internal ID20564116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:115063439..115068053hg38UCSC Ensembl
chr12:115501244..115505858hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg384615
hg194615
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6480564
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17997076
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