A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7236



Internal ID5089542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111289607..111369677hg19UCSC Ensembl
Outerchr12:109773990..109854060hg18UCSC Ensembl
Outerchr12:109752327..109832397hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv6534
SamplesNA12156
Known GenesCCDC63, MYL2
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv7236
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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