A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv901



Internal ID8519904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117352810..117385407hg38UCSC Ensembl
Outerchr12:117790615..117823212hg19UCSC Ensembl
Outerchr12:116274998..116307595hg18UCSC Ensembl
Outerchr12:116253335..116285932hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg387394
hg197394
hg187394
hg177394
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2015, nssv4054, nssv10910, nssv6536
SamplesNA15510, NA12156, NA12878, NA18555
Known GenesNOS1
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)nsv901
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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