A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18188429



Internal ID20755469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:48805701..48840300hg38UCSC Ensembl
chr17:46883063..46917662hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg3834600
hg1934600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6524768
Supporting Variants
Samples
Known GenesCALCOCO2, TTLL6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18188429
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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