A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5456012



Internal ID234081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44320000..44346000hg38UCSC Ensembl
chr6:44287737..44313737hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3826001
hg1926001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16984768
Samples
Known GenesSPATS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5456012
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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