A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009



Internal ID15545572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:38891979..38926490hg38UCSC Ensembl
Outerchr13:39466116..39500627hg19UCSC Ensembl
Outerchr13:38364116..38398627hg18UCSC Ensembl
Outerchr13:38364116..38398627hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg385237
hg195237
hg185237
hg175237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4066
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv1009
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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