A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4198



Internal ID15538925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:18796774..18839756hg38UCSC Ensembl
Outerchr16:18808096..18851078hg19UCSC Ensembl
Outerchr16:18715597..18758579hg18UCSC Ensembl
Outerchr16:18715597..18758579hg17UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3842983
hg1942983
hg1842983
hg1742983
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1752
Supporting Variants
SamplesNA12878
Known GenesARL6IP1, SMG1
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)nssv4198
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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