A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5264



Internal ID15203370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37158604..37180861hg38UCSC Ensembl
Outerchr6:37126380..37148637hg19UCSC Ensembl
Outerchr6:37234358..37256615hg18UCSC Ensembl
Outerchr6:37234358..37256615hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg385436
hg195436
hg185436
hg175436
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8237
SamplesNA12156
Known GenesPIM1
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)nsv5264
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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