A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv512716



Internal ID15505452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:8321625..8322497hg38UCSC Ensembl
Outerchr1:8381685..8382557hg19UCSC Ensembl
Outerchr1:8304272..8305144hg18UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38766
hg19766
hg18766
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv625340
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)nsv512716
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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