A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1319



Internal ID15544400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:72075062..72079989hg38UCSC Ensembl
Outerchr16:72108961..72113888hg19UCSC Ensembl
Outerchr16:70666462..70671389hg18UCSC Ensembl
Outerchr16:70666462..70671389hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3824920
hg1924920
hg1824920
hg1724920
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1864
Supporting Variants
SamplesNA19240
Known GenesHPR
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)nssv1319
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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