A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv858



Internal ID15552879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:101505135..101537908hg38UCSC Ensembl
Outerchr12:101898913..101931686hg19UCSC Ensembl
Outerchr12:100423044..100455817hg18UCSC Ensembl
Outerchr12:100401381..100434154hg17UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg388178
hg198178
hg188178
hg178178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1110
SamplesNA19240
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)nsv858
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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