A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5429757



Internal ID208593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101498891..101499288hg38UCSC Ensembl
chr1:101964447..101964844hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38398
hg19398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906561
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5429757
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