A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617545



Internal ID15470014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197918639..197924639hg38UCSC Ensembl
Outerchr1:197887769..197893769hg19UCSC Ensembl
Outerchr1:196154392..196160392hg18UCSC Ensembl
Outerchr1:194619426..194625426hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg386001
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv506971
Supporting Variants
SamplesCHM
Known GenesLHX9
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)nssv617545
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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