A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17365641



Internal ID22591310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3575409..3994736hg38UCSC Ensembl
chr12:3684575..4103902hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38419328
hg19419328
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916576
Supporting Variants
Samples
Known GenesEFCAB4B, PARP11, PRMT8
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17365641
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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