A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331143



Internal ID20864304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53020088..53024847hg38UCSC Ensembl
chr1:53485760..53490519hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384760
hg194760
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18201458
Samples
Known GenesSCP2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331143
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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