A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5878336



Internal ID22653301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86134703..86165695hg38UCSC Ensembl
chr1:86600386..86631378hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3830993
hg1930993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377418
Samples
Known GenesCOL24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5878336
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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