A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6044



Internal ID15191134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179595768..179655578hg38UCSC Ensembl
Outerchr5:179022769..179082579hg19UCSC Ensembl
Outerchr5:178955375..179015185hg18UCSC Ensembl
Outerchr5:178955375..179015185hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3859811
hg1959811
hg1859811
hg1759811
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7375
Supporting Variants
SamplesNA12156
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)nssv6044
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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