A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425996



Internal ID204943
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 StatusM
Merged Variants
Supporting Variantsnssv16892373
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)nsv5425996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer