A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322200



Internal ID20855310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143535101..143784000hg38UCSC Ensembl
chr1:149029763..149278640hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38248900
hg19248878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv328n223
Supporting Variantsnssv18200155
Samples
Known GenesLOC101929780, NBPF23
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322200
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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