A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17410849



Internal ID22468719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:181156844..181160912hg38UCSC Ensembl
chr3:180874632..180878700hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg384069
hg194069
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5896988
Supporting Variants
Samples
Known GenesSOX2-OT
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17410849
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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