A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17370917



Internal ID22596586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:80217586..80217638hg38UCSC Ensembl
chr17:78191385..78191437hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5931263
Supporting Variants
Samples
Known GenesSGSH
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17370917
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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