A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6412668



Internal ID21070221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111927901..111933400hg38UCSC Ensembl
chr5:111263598..111269097hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18125018
Samples
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6412668
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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