A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17383207



Internal ID22441077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63178099..63178099hg38UCSC Ensembl
chr1:63643770..63643770hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5966816
Supporting Variants
Samples
Known GenesLINC00466
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17383207
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