A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5415670



Internal ID194922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:103022357..103026845hg38UCSC Ensembl
chr1:103487913..103492401hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384489
hg194489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907561
Samples
Known GenesCOL11A1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5415670
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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