A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18201080



Internal ID20768120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:176206301..176208200hg38UCSC Ensembl
chr1:176175437..176177336hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317218
Supporting Variants
Samples
Known GenesRFWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18201080
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00011


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