A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3853



Internal ID15191894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248485561..248523723hg38UCSC Ensembl
Outerchr1:248648862..248687024hg19UCSC Ensembl
Outerchr1:246715485..246753647hg18UCSC Ensembl
Outerchr1:244974903..245013065hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3838163
hg1938163
hg1838163
hg1738163
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7193
Supporting Variants
SamplesNA12878
Known GenesOR2G6, OR2T5
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)nssv3853
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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