A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5886443



Internal ID22661430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174878294..174881910hg38UCSC Ensembl
chr1:174847432..174851048hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg383617
hg193617
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17363194
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5886443
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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