A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5556671



Internal ID329802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77990482..77990533hg38UCSC Ensembl
chr1:78456166..78456217hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38786
hg19786
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16905121
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5556671
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