A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5959965



Internal ID22734984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174176741..174176741hg38UCSC Ensembl
chr1:174145879..174145879hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17354304
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5959965
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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