A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17057042



Internal ID105868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30164322..30266885hg38UCSC Ensembl
chr12:30317255..30419818hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38102564
hg19102564
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143926
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17057042
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000625


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