A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027



Internal ID15198904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:46802456..46835423hg38UCSC Ensembl
Outerchr13:47376591..47409558hg19UCSC Ensembl
Outerchr13:46274592..46307559hg18UCSC Ensembl
Outerchr13:46274592..46307559hg17UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg386462
hg196462
hg186462
hg176462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6556
SamplesNA12156
Known GenesHTR2A
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)nsv1027
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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