A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5421288



Internal ID200370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174614229..174619050hg38UCSC Ensembl
chr1:174583367..174588188hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg384822
hg194822
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892578
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5421288
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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