A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329478



Internal ID20862630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161517901..161540000hg38UCSC Ensembl
chr1:161487691..161509790hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3822100
hg1922100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv411n223
Supporting Variantsnssv18199116
Samples
Known GenesFCGR2A, HSPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329478
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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