A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327716



Internal ID20860857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150309466..150394405hg38UCSC Ensembl
chr1:150281900..150366881hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3884940
hg1984982
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201519
Samples
Known GenesPRPF3, RPRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327716
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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