A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380133



Internal ID22438003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8050232..8053799hg38UCSC Ensembl
chr1:8110292..8113859hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg383568
hg193568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869252
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380133
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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