A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969753



Internal ID47152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131754777..131914005hg38UCSC Ensembl
chr6:132075917..132235145hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38159229
hg19159229
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466751
Supporting Variants
Samples
Known GenesENPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969753
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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