A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948138



Internal ID21368207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176451813..176451813hg38UCSC Ensembl
chr5:175878814..175878814hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15201845
SamplesHG002
Known GenesFAF2
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948138
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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