A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201307



Internal ID20768347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247693201..247753300hg38UCSC Ensembl
chr1:247856503..247916602hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3860100
hg1960100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328482
Supporting Variants
Samples
Known GenesOR6F1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201307
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0012


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