A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1976



Internal ID15541259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7774342..7832817hg38UCSC Ensembl
Outerchr12:7926938..7985413hg19UCSC Ensembl
Outerchr12:7818205..7876680hg18UCSC Ensembl
Outerchr12:7818205..7876680hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3858476
hg1958476
hg1858476
hg1758476
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7227
Supporting Variants
SamplesNA18555
Known GenesNANOG, SLC2A14
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)nssv1976
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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