A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5394



Internal ID15196214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:3430854..3464214hg38UCSC Ensembl
Outerchr12:3540020..3573380hg19UCSC Ensembl
Outerchr12:3410281..3443641hg18UCSC Ensembl
Outerchr12:3410281..3443641hg17UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg385917
hg195917
hg185917
hg175917
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv580
Supporting Variants
SamplesNA19129
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)nssv5394
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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