A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16971235



Internal ID48171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143814572..143814636hg38UCSC Ensembl
chr6:144135709..144135773hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5465294
Supporting Variants
Samples
Known GenesPHACTR2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16971235
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009835


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