A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17055750



Internal ID104998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8788000..8795350hg38UCSC Ensembl
chr12:8940596..8947946hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg387351
hg197351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502687
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17055750
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.045739


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