A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18190312



Internal ID20757352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59509939..59603772hg38UCSC Ensembl
chr17:57587300..57681133hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3893834
hg1993834
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6523456
Supporting Variants
Samples
Known GenesDHX40
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18190312
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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