A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1006



Internal ID15545569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:36870817..36896089hg38UCSC Ensembl
Outerchr13:37444954..37470226hg19UCSC Ensembl
Outerchr13:36342954..36368226hg18UCSC Ensembl
Outerchr13:36342954..36368226hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3833175
hg1933175
hg1833175
hg1733175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5471, nssv2029
SamplesNA18555, NA19129
Known GenesSMAD9
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)nsv1006
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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