A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622975



Internal ID15474862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:70182108..70188296hg38UCSC Ensembl
Outerchr6:70892000..70898000hg19UCSC Ensembl
Outerchr6:70948721..70954721hg18UCSC Ensembl
Outerchr6:70948721..70954721hg17UCSC Ensembl
Cytoband6q13
Allele length
AssemblyAllele length
hg386189
hg196001
hg186001
hg176001
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv507337
Supporting Variants
SamplesNA18994
Known GenesCOL19A1
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)nssv622975
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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