A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185416



Internal ID20752456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:118075602..118076586hg38UCSC Ensembl
chr12:118513407..118514391hg19UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38985
hg19985
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477498
Supporting Variants
Samples
Known GenesVSIG10
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185416
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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