A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3286



Internal ID15191328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:148526302..148573882hg38UCSC Ensembl
Outerchr1:147997854..148012332hg19UCSC Ensembl
Outerchr1:146464478..146478956hg18UCSC Ensembl
Outerchr1:145112766..145127244hg17UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3814391
hg1914391
hg1814391
hg1714391
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2755
Supporting Variants
SamplesNA12878
Known GenesNBPF10, NBPF8
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)nssv3286
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