A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1674



Internal ID15198704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:46743254..46813290hg38UCSC Ensembl
Outerchr3:46784744..46854780hg19UCSC Ensembl
Outerchr3:46759748..46829784hg18UCSC Ensembl
Outerchr3:46759748..46829784hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3870037
hg1970037
hg1870037
hg1770037
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3798
Supporting Variants
SamplesNA19240
Known GenesPRSS45
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)nssv1674
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