A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7236



Internal ID8519207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110851803..110931873hg38UCSC Ensembl
Outerchr12:111289607..111369677hg19UCSC Ensembl
Outerchr12:109773990..109854060hg18UCSC Ensembl
Outerchr12:109752327..109832397hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg3880071
hg1980071
hg1880071
hg1780071
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6534
SamplesNA12156
Known GenesCCDC63, MYL2
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)nsv7236
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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