A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11001



Internal ID15192903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51609870..51659280hg38UCSC Ensembl
Outerchr19:52113123..52162533hg19UCSC Ensembl
Outerchr19:56804935..56854345hg18UCSC Ensembl
Outerchr19:56804935..56854345hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3849411
hg1949411
hg1849411
hg1749411
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2532
Supporting Variants
SamplesNA15510
Known GenesSIGLEC14, SIGLEC5
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)nssv11001
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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