A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv718



Internal ID15205477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:55312572..55352417hg38UCSC Ensembl
Outerchr12:55706356..55746201hg19UCSC Ensembl
Outerchr12:53992623..54032468hg18UCSC Ensembl
Outerchr12:53992623..54032468hg17UCSC Ensembl
Cytoband12q13.2
Allele length
AssemblyAllele length
hg388498
hg198498
hg188498
hg178498
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4024, nssv6507, nssv5424, nssv1085
SamplesNA12156, NA12878, NA19240, NA19129
Known GenesOR6C1, OR6C3
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)nsv718
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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