A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5432990



Internal ID211719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93229835..93256000hg38UCSC Ensembl
chr1:93695392..93721557hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3826166
hg1926166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906688
Samples
Known GenesCCDC18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5432990
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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