A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18178433



Internal ID20745473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45875645..46036774hg38UCSC Ensembl
chr17:43953011..44114140hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38161130
hg19161130
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6514050
Supporting Variants
Samples
Known GenesKANSL1, MAPT, MAPT-AS1, MAPT-IT1, STH
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18178433
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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