A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5447032



Internal ID225346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211965566..211965683hg38UCSC Ensembl
chr1:212138908..212139025hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895094
Samples
Known GenesINTS7
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5447032
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