A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9842



Internal ID15539910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:80454353..80498951hg38UCSC Ensembl
Outerchr12:80848133..80892730hg19UCSC Ensembl
Outerchr12:79372264..79416861hg18UCSC Ensembl
Outerchr12:79350601..79395198hg17UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg3844599
hg1944598
hg1844598
hg1744598
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7231
Supporting Variants
SamplesNA18507
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)nssv9842
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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