A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514500



Internal ID20887854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5181384..5181995hg38UCSC Ensembl
chr17:5084679..5085290hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38612
hg19612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179030
Samples
Known GenesZNF594
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514500
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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