A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv497



Internal ID15549732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:113844029..113876184hg38UCSC Ensembl
Outerchr11:113714751..113746906hg19UCSC Ensembl
Outerchr11:113219961..113252116hg18UCSC Ensembl
Outerchr11:113219961..113252116hg17UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg388840
hg198840
hg188840
hg178840
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1041
SamplesNA19240
Known GenesUSP28
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)nsv497
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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