A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6598



Internal ID15190580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:67472007..67517440hg38UCSC Ensembl
Outerchr14:67938724..67984157hg19UCSC Ensembl
Outerchr14:67008477..67053910hg18UCSC Ensembl
Outerchr14:67008477..67053910hg17UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3845434
hg1945434
hg1845434
hg1745434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1320
Supporting Variants
SamplesNA12156
Known GenesTMEM229B
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)nssv6598
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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