A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9421



Internal ID15193686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179597721..179654332hg38UCSC Ensembl
Outerchr5:179024722..179081333hg19UCSC Ensembl
Outerchr5:178957328..179013939hg18UCSC Ensembl
Outerchr5:178957328..179013939hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3856612
hg1956612
hg1856612
hg1756612
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7375
Supporting Variants
SamplesNA18517
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)nssv9421
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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