A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540543



Internal ID315293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:23743134..23743174hg38UCSC Ensembl
chr7:23782753..23782793hg19UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16994543
Samples
Known GenesSTK31
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540543
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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