A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512714



Internal ID15852136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:6940883..6940939hg38UCSC Ensembl
Outerchr1:7000943..7000999hg19UCSC Ensembl
Outerchr1:6923530..6923586hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg381110
hg191110
hg181110
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625338
Samples1
Known GenesCAMTA1
MethodSequencing
AnalysisAnalysis of HGMDFN090 by Illumina Genome Analyzer mate pairs
PlatformNot reported
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nsv512714
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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