A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18192583



Internal ID20759623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130224817..130868832hg38UCSC Ensembl
chr12:130709362..131353377hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38644016
hg19644016
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6477596
Supporting Variants
Samples
Known GenesPIWIL1, RIMBP2, STX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18192583
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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