A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509878



Internal ID15825904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196326521..196332521hg38UCSC Ensembl
Outerchr3:196053392..196059392hg19UCSC Ensembl
Outerchr3:197537789..197543789hg18UCSC Ensembl
Outerchr3:197541702..197547702hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622045, nssv623932
SamplesNA18994, NA10860
Known GenesTM4SF19, TM4SF19-TCTEX1D2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nsv509878
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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