A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5960507



Internal ID22735480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10186498..10186498hg38UCSC Ensembl
chr2:10326624..10326624hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38636
hg19636
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17402126
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5960507
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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