A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5537348



Internal ID312640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203839992..203839992hg38UCSC Ensembl
chr1:203809120..203809120hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895525
Samples
Known GenesZC3H11A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5537348
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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