A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6138199



Internal ID337382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161568587..161668590hg38UCSC Ensembl
chr1:161538377..161638380hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38100004
hg19100004
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16892415
Samples
Known GenesFCGR2B, FCGR2C, FCGR3B, HSPA7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6138199
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