A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187499



Internal ID20754539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:151955..346304hg38UCSC Ensembl
chr12:261121..455470hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38194350
hg19194350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6475009
Supporting Variants
Samples
Known GenesIQSEC3, KDM5A, SLC6A12, SLC6A13
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187499
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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