A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4214



Internal ID15538941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49420800..49464807hg38UCSC Ensembl
Outerchr16:49454711..49498718hg19UCSC Ensembl
Outerchr16:48012212..48056219hg18UCSC Ensembl
Outerchr16:48012212..48056219hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3844008
hg1944008
hg1844008
hg1744008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1804
Supporting Variants
SamplesNA12878
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)nssv4214
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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