A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6514215



Internal ID20887567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19566467..19574038hg38UCSC Ensembl
chr17:19469780..19477351hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg387572
hg197572
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18186594
Samples
Known GenesSLC47A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6514215
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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