A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415180



Internal ID194440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65550417..65557917hg38UCSC Ensembl
chr1:66016100..66023600hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387501
hg197501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906111
Samples
Known GenesLEPR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415180
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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