A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv507842



Internal ID8790786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50171569..50177569hg38UCSC Ensembl
Outerchr17:48248930..48254930hg19UCSC Ensembl
Outerchr17:45603929..45609929hg18UCSC Ensembl
Outerchr17:45603929..45609929hg17UCSC Ensembl
Cytoband17q21.33
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 Variantsnssv617920, nssv619185, nssv623224
SamplesCHM, NA18994, NA10860
Known GenesHILS1, SGCA
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)nsv507842
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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