A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv579



Internal ID15203948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:2939942..2946448hg38UCSC Ensembl
Outerchr12:3049108..3055614hg19UCSC Ensembl
Outerchr12:2919369..2925875hg18UCSC Ensembl
Outerchr12:2919369..2925875hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg387237
hg197237
hg187237
hg177237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5393
SamplesNA19129
Known GenesTULP3
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)nsv579
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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