A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5953713



Internal ID22728992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:98837346..98837346hg38UCSC Ensembl
chr10:100597103..100597103hg19UCSC Ensembl
Cytoband10q24.2
Allele length
AssemblyAllele length
hg3859
hg1959
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17366556
Samples
Known GenesHPSE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5953713
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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