A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512721



Internal ID15505457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:17688805..17689490hg38UCSC Ensembl
Outerchr1:18015300..18015985hg19UCSC Ensembl
Outerchr1:17887887..17888572hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg381140
hg191140
hg181140
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625346
Samples1
Known GenesARHGEF10L
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512721
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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