A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953068



Internal ID22728364
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 StatusM
Merged Variants
Supporting Variantsnssv17359345
Samples
Known GenesSH2D4B
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953068
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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