A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507849



Internal ID8790793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:59052768..59058768hg38UCSC Ensembl
Outerchr17:57130129..57136129hg19UCSC Ensembl
Outerchr17:54484911..54490911hg18UCSC Ensembl
Outerchr17:54484911..54490911hg17UCSC Ensembl
Cytoband17q22
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 Variantsnssv623228, nssv620616, nssv617924
SamplesCHM, NA18994, NA15510
Known GenesTRIM37
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)nsv507849
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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