A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434004



Internal ID212695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191424675..191431092hg38UCSC Ensembl
chr2:192289401..192295818hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg386418
hg196418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16927639
Samples
Known GenesMYO1B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434004
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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