A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2003



Internal ID15541286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86253873..86277346hg38UCSC Ensembl
Outerchr12:86647651..86671124hg19UCSC Ensembl
Outerchr12:85171782..85195255hg18UCSC Ensembl
Outerchr12:85150119..85173592hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg387486
hg197486
hg187486
hg177486
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv801
Supporting Variants
SamplesNA18555
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)nssv2003
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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