A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513463



Internal ID15506199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:7838084..7838659hg38UCSC Ensembl
Outerchr17:7741402..7741977hg19UCSC Ensembl
Outerchr17:7682127..7682702hg18UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg381138
hg191138
hg181138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625868
Samples1
Known Genes
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513463
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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