A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17441314



Internal ID22499184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:72768343..72840809hg38UCSC Ensembl
chr8:73680578..73753044hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3872467
hg1972467
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5916259
Supporting Variants
Samples
Known GenesKCNB2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17441314
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