A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17386953



Internal ID22444823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48601162..48601281hg38UCSC Ensembl
chr17:46678524..46678643hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5928631
Supporting Variants
Samples
Known GenesHOXB6, HOXB-AS3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17386953
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.006


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