A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4051



Internal ID15538778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116951709..116984901hg38UCSC Ensembl
Outerchr12:117389514..117422706hg19UCSC Ensembl
Outerchr12:115873897..115907089hg18UCSC Ensembl
Outerchr12:115852234..115885426hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg386548
hg196548
hg186548
hg176548
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv900
Supporting Variants
SamplesNA12878
Known GenesFBXW8, LOC100506551
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)nssv4051
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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