A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557229



Internal ID330332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23292284..23292335hg38UCSC Ensembl
chr1:23618777..23618828hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38471
hg19471
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16900132
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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