A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5442



Internal ID15543164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:86256020..86271077hg38UCSC Ensembl
Outerchr12:86649798..86664855hg19UCSC Ensembl
Outerchr12:85173929..85188986hg18UCSC Ensembl
Outerchr12:85152266..85167323hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg386983
hg196983
hg186983
hg176983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv801
Supporting Variants
SamplesNA19129
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)nssv5442
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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