A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6509337



Internal ID20882646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42948746..42959944hg38UCSC Ensembl
chr17:41100763..41111961hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3811199
hg1911199
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18035667
Samples
Known GenesAARSD1, PTGES3L-AARSD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6509337
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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