A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6512046



Internal ID20885376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11909006..12062297hg38UCSC Ensembl
chr17:11812323..11965614hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38153292
hg19153292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185572
Samples
Known GenesDNAH9, MAP2K4, ZNF18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6512046
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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