A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16891136



Internal ID168272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150117415..150117622hg38UCSC Ensembl
chr1:150089533..150089740hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38208
hg19208
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5414236
Supporting Variants
Samples
Known GenesVPS45
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16891136
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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