A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2573



Internal ID15547136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2684911..2698625hg38UCSC Ensembl
Outerchr2:2688683..2702397hg19UCSC Ensembl
Outerchr2:2667690..2681404hg18UCSC Ensembl
Outerchr2:2658980..2672694hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3813715
hg1913715
hg1813715
hg1713715
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7458
SamplesNA12156
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)nsv2573
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