A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18185572



Internal ID20752612
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 StatusS
Merged Variantsnsv6512046
Supporting Variants
Samples
Known GenesDNAH9, MAP2K4, ZNF18
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18185572
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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