A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334067



Internal ID20867248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:62508863..62717990hg38UCSC Ensembl
chr1:62974534..63183661hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38209128
hg19209128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18062223
Samples
Known GenesANGPTL3, DOCK7
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334067
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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