A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878982



Internal ID22653949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174642841..174650805hg38UCSC Ensembl
chr1:174611979..174619943hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg387965
hg197965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17364675
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878982
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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