A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3048



Internal ID15547618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:176379677..176427132hg38UCSC Ensembl
Outerchr2:177244405..177291860hg19UCSC Ensembl
Outerchr2:176952651..177000106hg18UCSC Ensembl
Outerchr2:177069912..177117367hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3847456
hg1947456
hg1847456
hg1747456
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2305, nssv10256, nssv4481, nssv1555, nssv9356
SamplesNA12878, NA18956, NA18555, NA18517, NA19240
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)nsv3048
Frequency
Sample Size9
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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