A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv758



Internal ID15552603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:68444360..68477361hg38UCSC Ensembl
Outerchr12:68838140..68871141hg19UCSC Ensembl
Outerchr12:67124407..67157408hg18UCSC Ensembl
Outerchr12:67124407..67157408hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg386744
hg196744
hg186744
hg176744
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4030
SamplesNA12878
Known Genes
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)nsv758
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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