A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2289



Internal ID15200166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48042706..48077088hg38UCSC Ensembl
Outerchr18:45569077..45603459hg19UCSC Ensembl
Outerchr18:43823075..43857457hg18UCSC Ensembl
Outerchr18:43823075..43857457hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg386609
hg196609
hg186609
hg176609
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1405
SamplesNA19240
Known GenesZBTB7C
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)nsv2289
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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