A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507887



Internal ID15479566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11945123..11951123hg38UCSC Ensembl
Outerchr19:12055938..12061938hg19UCSC Ensembl
Outerchr19:11916938..11922938hg18UCSC Ensembl
Outerchr19:11916938..11922938hg17UCSC Ensembl
Cytoband19p13.2
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 Variantsnssv620639, nssv623256
SamplesNA18994, NA15510
Known GenesZNF700
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)nsv507887
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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