A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6530641



Internal ID20904002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8492155..8495320hg38UCSC Ensembl
chr19:8557039..8560204hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg383166
hg193166
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199069
Samples
Known GenesPRAM1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6530641
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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