A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470547



Internal ID248303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:42160993..42162141hg38UCSC Ensembl
chr6:42128731..42129879hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16981598
Samples
Known GenesGUCA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470547
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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