A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879592



Internal ID22654562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174798188..174832270hg38UCSC Ensembl
chr1:174767326..174801408hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3834083
hg1934083
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17365868
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879592
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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