A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2691



Internal ID15547254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:38532329..38558172hg38UCSC Ensembl
Outerchr2:38759471..38785314hg19UCSC Ensembl
Outerchr2:38612975..38638818hg18UCSC Ensembl
Outerchr2:38671122..38696965hg17UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3813666
hg1913666
hg1813666
hg1713666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10210
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)nsv2691
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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