A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6325766



Internal ID20858898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:245114536..245142324hg38UCSC Ensembl
chr1:245277838..245305626hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3827789
hg1927789
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200674
Samples
Known GenesEFCAB2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6325766
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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