A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1134



Internal ID15197917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132146042..132164483hg38UCSC Ensembl
Outerchr12:132630587..132649028hg19UCSC Ensembl
Outerchr12:131196540..131214981hg18UCSC Ensembl
Outerchr12:131296817..131315258hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg387083
hg197083
hg187083
hg177083
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv944
Supporting Variants
SamplesNA19240
Known GenesNOC4L
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)nssv1134
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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