A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1701



Internal ID15546264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:485468..522733hg38UCSC Ensembl
Outerchr16:535468..572733hg19UCSC Ensembl
Outerchr16:475469..512734hg18UCSC Ensembl
Outerchr16:475469..512734hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg389464
hg199464
hg189464
hg179464
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10072, nssv1283
SamplesNA18956, NA19240
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)nsv1701
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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