A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3130



Internal ID15547709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207472124..207499653hg38UCSC Ensembl
Outerchr2:208336848..208364377hg19UCSC Ensembl
Outerchr2:208045093..208072622hg18UCSC Ensembl
Outerchr2:208162354..208189883hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3827530
hg1927530
hg1827530
hg1727530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4497
SamplesNA12878
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)nsv3130
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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