A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4194



Internal ID15192235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:7083762..7119085hg38UCSC Ensembl
Outerchr16:7133763..7169086hg19UCSC Ensembl
Outerchr16:7073764..7109087hg18UCSC Ensembl
Outerchr16:7073764..7109087hg17UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg384425
hg194425
hg184425
hg174425
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1727
Supporting Variants
SamplesNA12878
Known GenesRBFOX1
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)nssv4194
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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