A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6518



Internal ID15537345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80461952..80498416hg38UCSC Ensembl
Outerchr12:80850792..80892195hg19UCSC Ensembl
Outerchr12:79374923..79416326hg18UCSC Ensembl
Outerchr12:79353260..79394663hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3836465
hg1941404
hg1841404
hg1741404
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7231
Supporting Variants
SamplesNA12156
Known GenesPTPRQ
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)nssv6518
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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