A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331141



Internal ID20864302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42763414..42763887hg38UCSC Ensembl
chr1:43229085..43229558hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38474
hg19474
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203129
Samples
Known GenesLEPRE1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331141
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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