A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1130



Internal ID15544608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129488063..129523131hg38UCSC Ensembl
Outerchr12:129972608..130007676hg19UCSC Ensembl
Outerchr12:128538561..128573629hg18UCSC Ensembl
Outerchr12:128497488..128532556hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg385932
hg195932
hg185932
hg175932
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv931
Supporting Variants
SamplesNA19240
Known GenesTMEM132D
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)nssv1130
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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