A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16892373



Internal ID169110
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161205293..161457950hg38UCSC Ensembl
chr1:161175083..161427740hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38252658
hg19252658
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5425996
Supporting Variants
Samples
Known GenesAPOA2, C1orf192, FCER1G, MIR5187, MPZ, NDUFS2, NR1I3, PCP4L1, SDHC, TOMM40L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16892373
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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