A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5980019



Internal ID22754954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4734671..4734671hg38UCSC Ensembl
chr12:4843837..4843837hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17361850
Samples
Known GenesGALNT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5980019
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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