A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326739



Internal ID20859876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44858647..45001456hg38UCSC Ensembl
chr1:45324319..45467128hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38142810
hg19142810
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201349
Samples
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326739
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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