A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3146



Internal ID15201040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:210378818..210398385hg38UCSC Ensembl
Outerchr2:211243542..211263109hg19UCSC Ensembl
Outerchr2:210951787..210971354hg18UCSC Ensembl
Outerchr2:211069048..211088615hg17UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg388052
hg198052
hg188052
hg178052
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7611
SamplesNA12156
Known Genes
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)nsv3146
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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