A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17372642



Internal ID22598311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80392654..80422796hg38UCSC Ensembl
chr17:78366454..78396596hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3830143
hg1930143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5939180
Supporting Variants
Samples
Known GenesENDOV, LOC100294362, MIR4730, RNF213
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17372642
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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