A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18125023



Internal ID20692063
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:111965234..112003185hg38UCSC Ensembl
chr5:111300931..111338882hg19UCSC Ensembl
Cytoband5q22.1
Allele length
AssemblyAllele length
hg3837952
hg1937952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6412803
Supporting Variants
Samples
Known GenesNREP, NREP-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18125023
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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