A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1453



Internal ID15197567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:40378721..40426248hg19UCSC Ensembl
Outerchr19:45070561..45118088hg18UCSC Ensembl
Outerchr19:45070561..45118088hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg1947528
hg1847528
hg1747528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2483
Supporting Variants
SamplesNA19240
Known GenesFCGBP
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)nssv1453
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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