A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6329313



Internal ID20862465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72164596..72682639hg38UCSC Ensembl
chr1:72630279..73148322hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38518044
hg19518044
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204364
Samples
Known GenesNEGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6329313
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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