A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948598



Internal ID21368667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44876573..44876573hg38UCSC Ensembl
chr1:45342245..45342245hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194196
SamplesHG002
Known GenesEIF2B3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948598
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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