A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5879434



Internal ID22654403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21697401..21961050hg38UCSC Ensembl
chr1:22023894..22287543hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38263650
hg19263650
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17351270
Samples
Known GenesHSPG2, LDLRAD2, USP48
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5879434
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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