A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6496525



Internal ID20869728
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:18344404..18354291hg38UCSC Ensembl
chr17:18247718..18257605hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389888
hg199888
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178740
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6496525
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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