A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5475512



Internal ID253148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:65944247..65945473hg38UCSC Ensembl
chr7:65409234..65410460hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg381227
hg191227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16997605
Samples
Known GenesVKORC1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5475512
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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