A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7247



Internal ID15536617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48869270..48913923hg38UCSC Ensembl
Outerchr16:48903181..48947834hg19UCSC Ensembl
Outerchr16:47460682..47505335hg18UCSC Ensembl
Outerchr16:47460682..47505335hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3844654
hg1944654
hg1844654
hg1744654
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1801
Supporting Variants
SamplesNA12156
Known Genes
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)nssv7247
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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