A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6406013



Internal ID21063566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82251001..82399500hg38UCSC Ensembl
chr5:81546820..81695319hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38148500
hg19148500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5797n223
Supporting Variantsnssv18214243
Samples
Known GenesATG10, ATP6AP1L, RPS23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6406013
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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