A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315748



Internal ID20848821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200024801..200030700hg38UCSC Ensembl
chr1:199993929..199999828hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg385900
hg195900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202339
Samples
Known GenesNR5A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315748
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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