A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6317378



Internal ID20850462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242148405..242166534hg38UCSC Ensembl
chr1:242311707..242329836hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3818130
hg1918130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18059127
Samples
Known GenesPLD5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6317378
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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