A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5954188



Internal ID22729442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:60434588..60434588hg38UCSC Ensembl
chr2:60661723..60661723hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38265
hg19265
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17405276
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5954188
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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