A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17056578



Internal ID105543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:55332968..55334400hg38UCSC Ensembl
chr12:55726752..55728184hg19UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg381433
hg191433
Variant TypeOTHER copy number variation
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5427807
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17056578
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.5


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