A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327187



Internal ID20860324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20647162..20652009hg38UCSC Ensembl
chr1:20973655..20978502hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384848
hg194848
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199884
Samples
Known GenesDDOST, PINK1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327187
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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