A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507193



Internal ID15478872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121035036..121041036hg38UCSC Ensembl
Outerchr4:121956191..121962191hg19UCSC Ensembl
Outerchr4:122175641..122181641hg18UCSC Ensembl
Outerchr4:122313796..122319796hg17UCSC Ensembl
Cytoband4q27
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 Variantsnssv617643, nssv622900, nssv621762, nssv620262
SamplesCHM, NA15510, NA18994, NA10860
Known GenesNDNF
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)nsv507193
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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