A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5417



Internal ID15543743
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 StatusS
Merged Variantsnsv683
Supporting Variants
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)nssv5417
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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