A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17366556



Internal ID22592225
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 StatusS
Merged Variantsnsv5953713
Supporting Variants
Samples
Known GenesHPSE2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17366556
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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