A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11117



Internal ID15192776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179596341..179657683hg38UCSC Ensembl
Outerchr5:179023342..179084684hg19UCSC Ensembl
Outerchr5:178955948..179017290hg18UCSC Ensembl
Outerchr5:178955948..179017290hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3861343
hg1961343
hg1861343
hg1761343
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7375
Supporting Variants
SamplesNA15510
Known GenesC5orf60, HNRNPH1, RUFY1
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)nssv11117
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