A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5417181



Internal ID196385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39884465..39887110hg38UCSC Ensembl
chr1:40350137..40352782hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg382646
hg192646
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16902084
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5417181
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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