A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4046



Internal ID15192087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101129969..101157071hg38UCSC Ensembl
Outerchr12:101523747..101550849hg19UCSC Ensembl
Outerchr12:100047878..100074980hg18UCSC Ensembl
Outerchr12:100026215..100053317hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg386660
hg196660
hg186660
hg176660
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv857
Supporting Variants
SamplesNA12878
Known GenesSLC5A8
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)nssv4046
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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