A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3953301



Internal ID21373371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46314067..46315468hg38UCSC Ensembl
chr19:46817324..46818725hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15176729
SamplesHG002
Known GenesHIF3A
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3953301
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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