A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315876



Internal ID20848950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235123261..235131348hg38UCSC Ensembl
chr1:235286576..235294663hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388088
hg198088
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202412
Samples
Known GenesRBM34, SNORA14B, TOMM20
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315876
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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