A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7228



Internal ID15205530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9249508..9472644hg38UCSC Ensembl
Outerchr12:9402104..9625240hg19UCSC Ensembl
Outerchr12:9293371..9516507hg18UCSC Ensembl
Outerchr12:9293371..9516507hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38223137
hg19223137
hg18223137
hg17223137
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5399, nssv1980, nssv6488, nssv9828, nssv9829
SamplesNA18507, NA12156, NA18555, NA19129
Known GenesDDX12P, LOC642846
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)nsv7228
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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