A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv733



Internal ID15205642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58916506..58973579hg38UCSC Ensembl
Outerchr12:59310287..59367360hg19UCSC Ensembl
Outerchr12:57596554..57653627hg18UCSC Ensembl
Outerchr12:57596554..57653627hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg385694
hg195694
hg185694
hg175694
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9033, nssv1090, nssv5428
SamplesNA19129, NA12156, NA19240
Known GenesLRIG3
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)nsv733
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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