A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2939



Internal ID15547502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:134220328..134252347hg38UCSC Ensembl
Outerchr2:134977899..135009918hg19UCSC Ensembl
Outerchr2:134694369..134726388hg18UCSC Ensembl
Outerchr2:134811631..134843650hg17UCSC Ensembl
Cytoband2q21.2
Allele length
AssemblyAllele length
hg387481
hg197481
hg187481
hg177481
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10240
SamplesNA18956
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)nsv2939
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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