A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200914



Internal ID20767954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149362801..149400800hg38UCSC Ensembl
chr1:145121076..145219024hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3838000
hg1997949
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330775
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200914
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00324


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