A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv781



Internal ID15552802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:78062363..78093561hg38UCSC Ensembl
Outerchr12:78456143..78487341hg19UCSC Ensembl
Outerchr12:76980274..77011472hg18UCSC Ensembl
Outerchr12:76958611..76989809hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg388067
hg198067
hg188067
hg178067
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5438
SamplesNA19129
Known GenesNAV3
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)nsv781
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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