A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326516



Internal ID20859652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:226184901..226186700hg38UCSC Ensembl
chr1:226372602..226374401hg19UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202707
Samples
Known GenesACBD3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326516
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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