A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4742882



Internal ID20518867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169029716..169030045hg38UCSC Ensembl
chr2:169886226..169886555hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38330
hg19330
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16287410
Samples
Known GenesABCB11
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nsv4742882
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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