A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5430834



Internal ID209629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:174594587..174610587hg38UCSC Ensembl
chr1:174563725..174579725hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg3816001
hg1916001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892577
Samples
Known GenesRABGAP1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5430834
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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