A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930496



Internal ID16961138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:1857279..1858461hg38UCSC Ensembl
Outerchr17:1760573..1761755hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381183
hg191183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607677
Samples
Known GenesRPA1
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the SDHC 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)nsv930496
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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