A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2207



Internal ID15546770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:12472445..12493522hg38UCSC Ensembl
Outerchr18:12472444..12493521hg19UCSC Ensembl
Outerchr18:12462444..12483521hg18UCSC Ensembl
Outerchr18:12462444..12483521hg17UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg386129
hg196129
hg186129
hg176129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4302, nssv1395
SamplesNA12878, NA19240
Known GenesSPIRE1
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)nsv2207
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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