A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7229



Internal ID15552217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17739217..17899533hg38UCSC Ensembl
Outerchr12:17892151..18052467hg19UCSC Ensembl
Outerchr12:17783418..17943734hg18UCSC Ensembl
Outerchr12:17783418..17943734hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38160317
hg19160317
hg18160317
hg17160317
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1984, nssv10854, nssv1064, nssv9282, nssv1065, nssv4015, nssv9832, nssv9281, nssv5407, nssv9831, nssv6494, nssv10901, nssv5408, nssv1982, nssv10853
SamplesNA18507, NA12156, NA12878, NA18956, NA15510, NA18555, NA18517, NA19240, NA19129
Known Genes
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)nsv7229
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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