A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17689085



Internal ID112751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:73414128..73711600hg38UCSC Ensembl
chr12:73807908..74105380hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38297473
hg19297473
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143130
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17689085
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000313


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer