A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv281



Internal ID15036793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179602551..179651568hg38UCSC Ensembl
Outerchr5:179029552..179078569hg19UCSC Ensembl
Outerchr5:178962158..179011175hg18UCSC Ensembl
Outerchr5:178962158..179011175hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3849018
hg1949018
hg1849018
hg1749018
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv281
Supporting Variants
SamplesNA15510
Known GenesC5orf60, HNRNPH1, RUFY1
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv281
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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