A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199937



Internal ID20766977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211830801..211834400hg38UCSC Ensembl
chr1:212004143..212007742hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332332
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199937
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00043


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