A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5439



Internal ID15543216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80461952..80495826hg38UCSC Ensembl
Outerchr12:80849801..80889605hg19UCSC Ensembl
Outerchr12:79373932..79413736hg18UCSC Ensembl
Outerchr12:79352269..79392073hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3833875
hg1939805
hg1839805
hg1739805
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv7231
Supporting Variants
SamplesNA19129
Known GenesPTPRQ
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)nssv5439
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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