A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3849



Internal ID15191890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248402779..248408141hg38UCSC Ensembl
Outerchr1:248566080..248571442hg19UCSC Ensembl
Outerchr1:246632703..246638065hg18UCSC Ensembl
Outerchr1:244892121..244897483hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385432
hg195432
hg185432
hg175432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5343
Supporting Variants
SamplesNA12878
Known GenesOR2T1
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)nssv3849
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