A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625380



Internal ID15502227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:179681880..179682250hg38UCSC Ensembl
Outerchr1:179651015..179651385hg19UCSC Ensembl
Outerchr1:177917638..177918008hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv512751
Supporting Variants
Samples1
Known GenesTDRD5
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625380
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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