A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432734



Internal ID211470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:114013012..114013178hg38UCSC Ensembl
chr1:114555634..114555800hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38167
hg19167
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889562
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432734
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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