A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510470



Internal ID15477968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:20637226..20643226hg38UCSC Ensembl
Outerchr19:20820032..20826032hg19UCSC Ensembl
Outerchr19:20611872..20617872hg18UCSC Ensembl
Outerchr19:20611872..20617872hg17UCSC Ensembl
Cytoband19p12
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 Variantsnssv618446, nssv624202
SamplesCHM, NA18994
Known GenesZNF626
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)nsv510470
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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