A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4368



Internal ID15192409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:47949958..47980047hg38UCSC Ensembl
Outerchr19:48453215..48483304hg19UCSC Ensembl
Outerchr19:53145027..53175116hg18UCSC Ensembl
Outerchr19:53145027..53175116hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3830090
hg1930090
hg1830090
hg1730090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2513
Supporting Variants
SamplesNA12878
Known GenesBSPH1, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C5
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)nssv4368
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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