A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6315797



Internal ID20848871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45413655..45561128hg38UCSC Ensembl
chr1:45879327..46026800hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38147474
hg19147474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201356
Samples
Known GenesAKR1A1, CCDC163P, MMACHC, PRDX1, TESK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6315797
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer