A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4015



Internal ID15538742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:17776015..17893144hg38UCSC Ensembl
Outerchr12:17928949..18046078hg19UCSC Ensembl
Outerchr12:17820216..17937345hg18UCSC Ensembl
Outerchr12:17820216..17937345hg17UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38117130
hg19117130
hg18117130
hg17117130
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7229
Supporting Variants
SamplesNA12878
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)nssv4015
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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