A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6116



Internal ID15537747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:208600787..208644748hg38UCSC Ensembl
Outerchr1:208774132..208818093hg19UCSC Ensembl
Outerchr1:206840755..206884716hg18UCSC Ensembl
Outerchr1:205162527..205206488hg17UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3843962
hg1943962
hg1843962
hg1743962
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7189
Supporting Variants
SamplesNA12156
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)nssv6116
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