A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv944



Internal ID15206279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132138516..132164483hg38UCSC Ensembl
Outerchr12:132623061..132649028hg19UCSC Ensembl
Outerchr12:131189014..131214981hg18UCSC Ensembl
Outerchr12:131289291..131315258hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv6545, nssv1134
SamplesNA12156, NA19240
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)nsv944
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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