A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv569



Internal ID15203838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:179808..196558hg38UCSC Ensembl
Outerchr12:288974..305724hg19UCSC Ensembl
Outerchr12:159235..175985hg18UCSC Ensembl
Outerchr12:159235..175985hg17UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3816751
hg1916751
hg1816751
hg1716751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002
SamplesNA12878
Known GenesSLC6A12
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)nsv569
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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