A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967550



Internal ID22742485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85732938..85732938hg38UCSC Ensembl
chr2:85960061..85960061hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399455
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967550
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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