A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5547575



Internal ID321408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:82678956..82678956hg38UCSC Ensembl
chr1:83144639..83144639hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16908157
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5547575
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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