A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5877520



Internal ID22652485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:45616955..45631372hg38UCSC Ensembl
chr1:46082627..46097044hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg3814418
hg1914418
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17376438
Samples
Known GenesCCDC17, GPBP1L1, NASP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5877520
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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