A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5420249



Internal ID199357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:6283000..6284346hg38UCSC Ensembl
chr1:6343060..6344406hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381347
hg191347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905342
Samples
Known GenesACOT7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5420249
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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