A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17375317



Internal ID22600986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:28680068..28680360hg38UCSC Ensembl
chr17:27007086..27007378hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5932144
Supporting Variants
Samples
Known GenesSUPT6H
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17375317
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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