A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5426116



Internal ID205059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23784520..23785034hg38UCSC Ensembl
chr1:24111010..24111524hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16901112
Samples
Known GenesPITHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5426116
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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