A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1101



Internal ID15544686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86233594..86261611hg38UCSC Ensembl
Outerchr12:86627372..86655389hg19UCSC Ensembl
Outerchr12:85151503..85179520hg18UCSC Ensembl
Outerchr12:85129840..85157857hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387778
hg197778
hg187778
hg177778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv801
Supporting Variants
SamplesNA19240
Known GenesMGAT4C
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)nssv1101
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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