A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378293



Internal ID22436163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4531823..4556262hg38UCSC Ensembl
chr17:4435118..4459557hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3824440
hg1924440
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5936702
Supporting Variants
Samples
Known GenesMYBBP1A, SPNS2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378293
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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