A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1781



Internal ID15199658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:30114391..30148294hg38UCSC Ensembl
Outerchr16:30125712..30159615hg19UCSC Ensembl
Outerchr16:30033213..30067116hg18UCSC Ensembl
Outerchr16:30033213..30067116hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg385382
hg195382
hg185382
hg175382
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5601
SamplesNA19129
Known GenesMAPK3
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)nsv1781
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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