A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6391014



Internal ID21048567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41869601..41871200hg38UCSC Ensembl
chr5:41869703..41871302hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18131023
Samples
Known GenesOXCT1, OXCT1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6391014
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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