A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6494



Internal ID15537369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17785607..17882690hg38UCSC Ensembl
Outerchr12:17938541..18035624hg19UCSC Ensembl
Outerchr12:17829808..17926891hg18UCSC Ensembl
Outerchr12:17829808..17926891hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg3897084
hg1997084
hg1897084
hg1797084
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7229
Supporting Variants
SamplesNA12156
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)nssv6494
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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