A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432831



Internal ID211564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66628829..66629098hg38UCSC Ensembl
chr1:67094512..67094781hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16903945
Samples
Known GenesSGIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432831
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