A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17376936



Internal ID22434806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:66221381..66221381hg38UCSC Ensembl
chr17:64217499..64217499hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5970724
Supporting Variants
Samples
Known GenesAPOH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17376936
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