A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3950446



Internal ID21370515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8098512..8098578hg38UCSC Ensembl
chr19:8163396..8163462hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15177536
SamplesHG002
Known GenesFBN3
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3950446
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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