A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5540875



Internal ID315567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:98309952..98309952hg38UCSC Ensembl
chr7:97939264..97939264hg19UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg381705
hg191705
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17000486
Samples
Known GenesBAIAP2L1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5540875
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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