A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7231



Internal ID15552220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80420176..80503303hg38UCSC Ensembl
Outerchr12:80813956..80897082hg19UCSC Ensembl
Outerchr12:79338087..79421213hg18UCSC Ensembl
Outerchr12:79316424..79399550hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3883128
hg1983127
hg1883127
hg1783127
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5439, nssv9284, nssv6518, nssv10875, nssv9842, nssv9285, nssv9841
SamplesNA18507, NA12156, NA18956, NA18517, NA19129
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)nsv7231
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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