A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18200912



Internal ID20767952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149361901..149393700hg38UCSC Ensembl
chr1:145120176..145211928hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3831800
hg1991753
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332095
Supporting Variants
Samples
Known GenesLOC100288142, NBPF9, NOTCH2NL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18200912
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0063


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