A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625871



Internal ID15849404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:17831044..17831226hg38UCSC Ensembl
Outerchr17:17734358..17734540hg19UCSC Ensembl
Outerchr17:17675083..17675265hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38972
hg19972
hg18972
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv513466
Supporting Variants
Samples1
Known GenesSREBF1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625871
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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