A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3948800



Internal ID21368870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:76793391..76793391hg38UCSC Ensembl
chr14:77259734..77259734hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15194879, nssv15194880
SamplesHG002
Known GenesANGEL1
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nsv3948800
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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