A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv683



Internal ID15551778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:40557671..40602456hg38UCSC Ensembl
Outerchr12:40951473..40996258hg19UCSC Ensembl
Outerchr12:39237740..39282525hg18UCSC Ensembl
Outerchr12:39237740..39282525hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3844786
hg1944786
hg1844786
hg1744786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5417
SamplesNA19129
Known GenesMUC19
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)nsv683
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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