A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv554



Internal ID15203673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:132051106..132059092hg38UCSC Ensembl
Outerchr11:131921000..131928986hg19UCSC Ensembl
Outerchr11:131426210..131434196hg18UCSC Ensembl
Outerchr11:131426210..131434196hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg3811567
hg1911567
hg1811567
hg1711567
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1971
SamplesNA18555
Known GenesNTM
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)nsv554
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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