A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6477596



Internal ID21135149
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 StatusM
Merged Variants
Supporting Variantsnssv18192583
Samples
Known GenesPIWIL1, RIMBP2, STX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6477596
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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