A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5941598



Internal ID22717025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100636732..100637471hg38UCSC Ensembl
chr12:101030510..101031249hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38740
hg19740
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366926
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5941598
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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