A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384836



Internal ID22442706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85654098..85657845hg38UCSC Ensembl
chr1:86119781..86123528hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg383748
hg193748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5871143
Supporting Variants
Samples
Known GenesZNHIT6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384836
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