A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334257



Internal ID20867440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:59796358..59899216hg38UCSC Ensembl
chr1:60262030..60364888hg19UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38102859
hg19102859
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202099
Samples
Known GenesCYP2J2, HOOK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334257
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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