A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv521



Internal ID15198014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179638210..179694324hg38UCSC Ensembl
Outerchr5:179065211..179121325hg19UCSC Ensembl
Outerchr5:178997817..179053931hg18UCSC Ensembl
Outerchr5:178997817..179053931hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856115
hg1956115
hg1856115
hg1756115
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7375
Supporting Variants
SamplesNA19240
Known GenesC5orf60, CBY3
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)nssv521
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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