A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5892717



Internal ID22667771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118094022..118094366hg38UCSC Ensembl
chr2:118851598..118851942hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401277
Samples
Known GenesINSIG2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5892717
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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