A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16890170



Internal ID167594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149598587..149604587hg38UCSC Ensembl
chr1:148820589..149573748hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg386001
hg19753160
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6138781
Supporting Variants
Samples
Known GenesFCGR1C, LOC101929780, LOC388692, LOC645166, NBPF23, PPIAL4A, PPIAL4B, PPIAL4C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16890170
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000806


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