A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2800368



Internal ID21245706
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6318735..6318735hg38UCSC Ensembl
chr19:6318746..6318746hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv13710250
Samples
Known GenesACER1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nsv2800368
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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