A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6500575



Internal ID20873802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19554668..19719706hg38UCSC Ensembl
chr17:19457981..19623019hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38165039
hg19165039
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193926
Samples
Known GenesALDH3A2, SLC47A1, SLC47A2, SNORA59A, SNORA59B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6500575
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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