A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200785



Internal ID20767825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145167701..145169700hg38UCSC Ensembl
chr1:149671686..149673687hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg382000
hg192002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6329469
Supporting Variants
Samples
Known GenesLINC00869
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200785
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00254


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