A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv984



Internal ID15206319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:30747467..30777530hg38UCSC Ensembl
Outerchr13:31321604..31351667hg19UCSC Ensembl
Outerchr13:30219604..30249667hg18UCSC Ensembl
Outerchr13:30219604..30249667hg17UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg386018
hg196018
hg186018
hg176018
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9953
SamplesNA18507
Known GenesALOX5AP
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)nsv984
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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