A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188368



Internal ID20755408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:30997328..31141689hg38UCSC Ensembl
chr12:31150263..31294623hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38144362
hg19144361
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6457431
Supporting Variants
Samples
Known GenesDDX11, DDX11-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188368
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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