A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6320940



Internal ID20854041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143487801..143503800hg38UCSC Ensembl
chr1:148849137..148865146hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3816000
hg1916010
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200134
Samples
Known GenesLOC101929780
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6320940
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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