A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2906



Internal ID15547469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126309382..126331130hg38UCSC Ensembl
Outerchr2:127066959..127088707hg19UCSC Ensembl
Outerchr2:126783429..126805177hg18UCSC Ensembl
Outerchr2:126783189..126804937hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg389505
hg199505
hg189505
hg179505
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6868, nssv9352
SamplesNA12156, NA18517
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)nsv2906
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer