A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5900693



Internal ID22675837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146240117..146240179hg38UCSC Ensembl
chr3:145957904..145957966hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17427184
Samples
Known GenesPLSCR4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5900693
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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