A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359345



Internal ID22585014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:80627643..80627643hg38UCSC Ensembl
chr10:82387399..82387399hg19UCSC Ensembl
Cytoband10q23.1
Allele length
AssemblyAllele length
hg38142
hg19142
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5953068
Supporting Variants
Samples
Known GenesSH2D4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359345
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