A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6330487



Internal ID20863644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:143536301..143567500hg38UCSC Ensembl
chr1:149030963..149062161hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3831200
hg1931199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv334n223
Supporting Variantsnssv18200734
Samples
Known GenesLOC101929780
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6330487
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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