A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969763



Internal ID47159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:131810810..131811116hg38UCSC Ensembl
chr6:132131950..132132256hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141328
Supporting Variants
Samples
Known GenesENPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16969763
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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