A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6506436



Internal ID20879716
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 StatusM
Merged Variants
Supporting Variantsnssv18177582
Samples
Known GenesSHMT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6506436
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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