A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1259



Internal ID15199136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:44950120..44975457hg38UCSC Ensembl
Outerchr14:45419323..45444660hg19UCSC Ensembl
Outerchr14:44489073..44514410hg18UCSC Ensembl
Outerchr14:44489073..44514410hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3825338
hg1925338
hg1825338
hg1725338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9191
SamplesNA12156
Known GenesFAM179B, KLHL28
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)nsv1259
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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