A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449385



Internal ID22507255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:81666267..81666267hg38UCSC Ensembl
chr8:82578502..82578502hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950346
Supporting Variants
Samples
Known GenesIMPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449385
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