A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5425534



Internal ID204496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8124168..8131560hg38UCSC Ensembl
chr1:8184228..8191620hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg387393
hg197393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6n206
Supporting Variantsnssv17683929
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5425534
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