A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv794



Internal ID15552815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:84961269..84995641hg38UCSC Ensembl
Outerchr12:85355048..85389420hg19UCSC Ensembl
Outerchr12:83879179..83913551hg18UCSC Ensembl
Outerchr12:83857516..83891888hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3834373
hg1934373
hg1834373
hg1734373
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9051
SamplesNA12156
Known Genes
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)nsv794
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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