A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892601



Internal ID22667654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:115902990..115913358hg38UCSC Ensembl
chr5:115238687..115249055hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3810369
hg1910369
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424704
Samples
Known GenesAP3S1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892601
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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