A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512483



Internal ID15505222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:31329205..31333014hg38UCSC Ensembl
Outerchr17:29656223..29660032hg19UCSC Ensembl
Outerchr17:26680349..26684158hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg383810
hg193810
hg183810
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625082
Samples1
Known GenesNF1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512483
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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