A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5290



Internal ID15203399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:47452135..47490906hg38UCSC Ensembl
Outerchr6:47419871..47458642hg19UCSC Ensembl
Outerchr6:47527830..47566601hg18UCSC Ensembl
Outerchr6:47527830..47566601hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg389277
hg199277
hg189277
hg179277
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2589, nssv4913, nssv11125
SamplesNA15510, NA18555, NA19129
Known GenesCD2AP
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)nsv5290
Frequency
Sample Size9
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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