A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv513468



Internal ID15506204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:30792534..30793927hg38UCSC Ensembl
Outerchr17:29119552..29120945hg19UCSC Ensembl
Outerchr17:26143678..26145071hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg381003
hg191003
hg181003
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625873
Samples1
Known GenesCRLF3
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv513468
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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