A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432032



Internal ID210789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168671300..168697470hg38UCSC Ensembl
chr1:168640538..168666708hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3826171
hg1926171
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16891841
Samples
Known GenesDPT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432032
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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