A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5846891



Internal ID22621826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48642222..48647871hg38UCSC Ensembl
chr7:48681818..48687467hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg385650
hg195650
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17507122
Samples
Known GenesABCA13
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5846891
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