A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034308



Internal ID20601348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2142391..2150818hg38UCSC Ensembl
chr17:2045685..2054112hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg388428
hg198428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6511314
Supporting Variants
Samples
Known GenesSMG6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034308
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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