A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5981403



Internal ID21890746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156215994..156216306hg38UCSC Ensembl
chr1:156185785..156186097hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17533862
Samples
Known GenesPMF1, PMF1-BGLAP
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5981403
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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