A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5438630



Internal ID217190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245009703..245024832hg38UCSC Ensembl
chr1:245173005..245188134hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3815130
hg1915130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16897749
Samples
Known GenesEFCAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5438630
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