A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6545



Internal ID15190633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132138516..132153548hg38UCSC Ensembl
Outerchr12:132623061..132638093hg19UCSC Ensembl
Outerchr12:131189014..131204046hg18UCSC Ensembl
Outerchr12:131289291..131304323hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg388507
hg198507
hg188507
hg178507
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv944
Supporting Variants
SamplesNA12156
Known GenesDDX51, NOC4L
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)nssv6545
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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