A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5557872



Internal ID330954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78141369..78141369hg38UCSC Ensembl
chr1:78607053..78607053hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38319
hg19319
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905130
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5557872
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