A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10483



Internal ID15195629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179602493..179655542hg38UCSC Ensembl
Outerchr5:179029494..179082543hg19UCSC Ensembl
Outerchr5:178962100..179015149hg18UCSC Ensembl
Outerchr5:178962100..179015149hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3853050
hg1953050
hg1853050
hg1753050
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7375
Supporting Variants
SamplesNA18956
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)nssv10483
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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