A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508047



Internal ID15479723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:172187125..172193125hg38UCSC Ensembl
Outerchr1:172156265..172162265hg19UCSC Ensembl
Outerchr1:170422888..170428888hg18UCSC Ensembl
Outerchr1:168887922..168893922hg17UCSC Ensembl
Cytoband1q24.3
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 Variantsnssv618514, nssv624223
SamplesCHM, NA18994
Known GenesDNM3
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)nsv508047
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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