A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377896



Internal ID22435766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42003950..42007837hg38UCSC Ensembl
chr17:40155968..40159855hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg383888
hg193888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930440
Supporting Variants
Samples
Known GenesDNAJC7
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377896
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.02


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