A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6488



Internal ID15190690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:9331382..9438707hg38UCSC Ensembl
Outerchr12:9483978..9591303hg19UCSC Ensembl
Outerchr12:9375245..9482570hg18UCSC Ensembl
Outerchr12:9375245..9482570hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38107326
hg19107326
hg18107326
hg17107326
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7228
Supporting Variants
SamplesNA12156
Known GenesDDX12P
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)nssv6488
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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