A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2689



Internal ID15547252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38181845..38212878hg38UCSC Ensembl
Outerchr2:38408987..38440020hg19UCSC Ensembl
Outerchr2:38262491..38293524hg18UCSC Ensembl
Outerchr2:38320638..38351671hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg388855
hg198855
hg188855
hg178855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv11011
SamplesNA15510
Known GenesCYP1B1-AS1
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)nsv2689
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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