A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17377418



Internal ID22435288
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 StatusS
Merged Variantsnsv5878336
Supporting Variants
Samples
Known GenesCOL24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17377418
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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