A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1053



Internal ID15544983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:407796..436044hg38UCSC Ensembl
Outerchr12:516962..545210hg19UCSC Ensembl
Outerchr12:387223..415471hg18UCSC Ensembl
Outerchr12:387223..415471hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389251
hg199251
hg189251
hg179251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv571
Supporting Variants
SamplesNA19240
Known GenesCCDC77
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)nssv1053
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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