A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv305



Internal ID15200934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:45237274..45240696hg38UCSC Ensembl
Outerchr11:45258825..45262247hg19UCSC Ensembl
Outerchr11:45215401..45218823hg18UCSC Ensembl
Outerchr11:45215401..45218823hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386662
hg196662
hg186662
hg176662
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3943
SamplesNA12878
Known GenesSYT13
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)nsv305
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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