A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930502



Internal ID16961144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14621533..14622244hg38UCSC Ensembl
Outerchr19:14732345..14733056hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607668
Samples
Known GenesEMR3
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the ITGB1 gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample, by convention it must be referred to here as a deletion.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nsv930502
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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