A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5859243



Internal ID22634178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:75336401..75344735hg38UCSC Ensembl
chr12:75730181..75738515hg19UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388335
hg198335
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17463089
Samples
Known GenesCAPS2, GLIPR1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5859243
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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