A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6322587



Internal ID20855700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109166504..109284128hg38UCSC Ensembl
chr1:109709126..109826750hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38117625
hg19117625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199236
Samples
Known GenesCELSR2, KIAA1324, PSRC1, SARS
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6322587
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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