A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17389909



Internal ID22447779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86985367..86985367hg38UCSC Ensembl
chr1:87451050..87451050hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5965346
Supporting Variants
Samples
Known GenesHS2ST1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17389909
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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