A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1607666



Internal ID16961073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:168055359..168056493hg38UCSC Ensembl
Outerchr1:168024597..168025731hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381135
hg191135
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv930468
Supporting Variants
Samples
Known GenesDCAF6
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the GCSH 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)nssv1607666
Frequency
Sample Size946
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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