A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6342586



Internal ID21000139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:112408601..112411900hg38UCSC Ensembl
chr2:113166178..113169477hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383300
hg193300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18206486
Samples
Known GenesRGPD5, RGPD8
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6342586
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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