A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17351783



Internal ID22577452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228252082..228253775hg38UCSC Ensembl
chr1:228439783..228441476hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5886906
Supporting Variants
Samples
Known GenesOBSCN
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17351783
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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