A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv397



Internal ID15201946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:77029458..77061529hg38UCSC Ensembl
Outerchr11:76740502..76772576hg19UCSC Ensembl
Outerchr11:76418150..76450224hg18UCSC Ensembl
Outerchr11:76418150..76450224hg17UCSC Ensembl
Cytoband11q13.5
Allele length
AssemblyAllele length
hg387364
hg197364
hg187364
hg177364
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6470
SamplesNA12156
Known GenesB3GNT6
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)nsv397
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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