A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6349627



Internal ID21007180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:68173628..68205934hg38UCSC Ensembl
chr2:68400760..68433066hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3832307
hg1932307
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206973
Samples
Known GenesPNO1, PPP3R1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6349627
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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