A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429549



Internal ID208393
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:178323836..178329468hg38UCSC Ensembl
chr1:178292971..178298603hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385633
hg195633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892968
Samples
Known GenesRASAL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429549
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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