A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1700



Internal ID15199577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:457843..476640hg38UCSC Ensembl
Outerchr16:507843..526640hg19UCSC Ensembl
Outerchr16:447844..466641hg18UCSC Ensembl
Outerchr16:447844..466641hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387151
hg197151
hg187151
hg177151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4183
SamplesNA12878
Known GenesRAB11FIP3
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)nsv1700
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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