A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2629



Internal ID15547192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:19688435..19721292hg38UCSC Ensembl
Outerchr2:19888196..19921053hg19UCSC Ensembl
Outerchr2:19751677..19784534hg18UCSC Ensembl
Outerchr2:19809824..19842681hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg387150
hg197150
hg187150
hg177150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2251
SamplesNA18555
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)nsv2629
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