A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580



Internal ID15203959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3430854..3471028hg38UCSC Ensembl
Outerchr12:3540020..3580194hg19UCSC Ensembl
Outerchr12:3410281..3450455hg18UCSC Ensembl
Outerchr12:3410281..3450455hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385344
hg195344
hg185344
hg175344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8988, nssv5394
SamplesNA12156, NA19129
Known GenesPRMT8
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)nsv580
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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