A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5399



Internal ID15197488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9249508..9446623hg38UCSC Ensembl
Outerchr12:9402104..9599219hg19UCSC Ensembl
Outerchr12:9293371..9490486hg18UCSC Ensembl
Outerchr12:9293371..9490486hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38197116
hg19197116
hg18197116
hg17197116
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7228
Supporting Variants
SamplesNA19129
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)nssv5399
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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