A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7347



Internal ID15205661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40972874..41180555hg38UCSC Ensembl
Outerchr21:42344800..42552482hg19UCSC Ensembl
Outerchr21:41266670..41474352hg18UCSC Ensembl
Outerchr21:41266670..41474352hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38207682
hg19207683
hg18207683
hg17207683
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6958
SamplesNA12156
Known GenesBACE2, LINC00323, MIR3197, PLAC4
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)nsv7347
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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