A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9033



Internal ID15188145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:58916506..58950243hg38UCSC Ensembl
Outerchr12:59310287..59344024hg19UCSC Ensembl
Outerchr12:57596554..57630291hg18UCSC Ensembl
Outerchr12:57596554..57630291hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg385694
hg195694
hg185694
hg175694
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv733
Supporting Variants
SamplesNA12156
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)nssv9033
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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