A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1069



Internal ID15198164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27410480..27444459hg38UCSC Ensembl
Outerchr12:27563413..27597392hg19UCSC Ensembl
Outerchr12:27454680..27488659hg18UCSC Ensembl
Outerchr12:27454680..27488659hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387006
hg197006
hg187006
hg177006
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv650
Supporting Variants
SamplesNA19240
Known GenesARNTL2
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)nssv1069
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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