A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5872119



Internal ID22647058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70344579..70352434hg38UCSC Ensembl
chr2:70571711..70579566hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg387856
hg197856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17399370
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5872119
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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