A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6331169



Internal ID20864331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115691217..115745168hg38UCSC Ensembl
chr1:116233838..116287789hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3853952
hg1953952
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18199745
Samples
Known GenesCASQ2, VANGL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6331169
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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