A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5956446



Internal ID22731632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42245094..42245094hg38UCSC Ensembl
chr2:42472234..42472234hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38175
hg19175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17394672
Samples
Known GenesEML4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5956446
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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