A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17012663



Internal ID76114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56442923..56442999hg38UCSC Ensembl
chr8:57355482..57355558hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5492565
Supporting Variants
Samples
Known GenesPENK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17012663
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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