A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18177582



Internal ID20744622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18330716..18331055hg38UCSC Ensembl
chr17:18234030..18234369hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6506436
Supporting Variants
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18177582
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00024


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