A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5871141



Internal ID22646079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:95331604..95339365hg38UCSC Ensembl
chr2:95997352..96005113hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg387762
hg197762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17401208
Samples
Known GenesKCNIP3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5871141
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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