A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062



Internal ID15545625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:58223789..58256083hg38UCSC Ensembl
Outerchr13:58797923..58830217hg19UCSC Ensembl
Outerchr13:57695924..57728218hg18UCSC Ensembl
Outerchr13:57695924..57728218hg17UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg388696
hg198696
hg188696
hg178696
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149
SamplesNA19240
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)nsv1062
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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