A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7238



Internal ID15205541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120226237..120244720hg38UCSC Ensembl
Outerchr12:120664040..120682523hg19UCSC Ensembl
Outerchr12:119148423..119166906hg18UCSC Ensembl
Outerchr12:119126760..119145243hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg3818484
hg1918484
hg1818484
hg1718484
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1121
SamplesNA19240
Known GenesPXN
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)nsv7238
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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