A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9979



Internal ID15541896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:129533775..129561506hg38UCSC Ensembl
Outerchr12:130018320..130046051hg19UCSC Ensembl
Outerchr12:128584273..128612004hg18UCSC Ensembl
Outerchr12:128543200..128570931hg17UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3811768
hg1911768
hg1811768
hg1711768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv933
Supporting Variants
SamplesNA18956
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)nssv9979
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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