A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199761



Internal ID20766801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117945738..117967149hg38UCSC Ensembl
chr1:118488361..118509772hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg3821412
hg1921412
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332151
Supporting Variants
Samples
Known GenesSPAG17, WDR3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199761
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00013


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