A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5963079



Internal ID22738014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85906264..85906264hg38UCSC Ensembl
chr1:86371947..86371947hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17377742
Samples
Known GenesCOL24A1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5963079
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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