A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv627001



Internal ID15850533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:23974167..24016384hg38UCSC Ensembl
Outerchr14:24443376..24485593hg19UCSC Ensembl
Outerchr14:23513216..23555433hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3842218
hg1942218
hg1842218
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513749
Supporting Variants
Samples1
Known GenesDHRS4L1, DHRS4L2
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv627001
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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