A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443361



Internal ID22501231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:52178643..52178643hg38UCSC Ensembl
chr8:53091203..53091203hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg38242
hg19242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5955181
Supporting Variants
Samples
Known GenesST18
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443361
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