A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125017



Internal ID20692057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111920001..111921600hg38UCSC Ensembl
chr5:111255698..111257297hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg381600
hg191600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6410884
Supporting Variants
Samples
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125017
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00044


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