A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6328127



Internal ID20861272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:117406201..117407400hg38UCSC Ensembl
chr1:117948823..117950022hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18051847
Samples
Known GenesMAN1A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6328127
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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