A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912807



Internal ID22688023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:24141887..24149277hg38UCSC Ensembl
chr10:24430816..24438206hg19UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg387391
hg197391
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353057
Samples
Known GenesKIAA1217
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912807
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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