A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611



Internal ID8517968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:11741221..11755900hg38UCSC Ensembl
Outerchr12:11894155..11908834hg19UCSC Ensembl
Outerchr12:11785422..11800101hg18UCSC Ensembl
Outerchr12:11785422..11800101hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg386951
hg196951
hg186951
hg176951
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1063
SamplesNA19240
Known GenesETV6
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)nsv611
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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