A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622837



Internal ID15474724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:202668015..202674015hg38UCSC Ensembl
Outerchr2:203532738..203538738hg19UCSC Ensembl
Outerchr2:203240983..203246983hg18UCSC Ensembl
Outerchr2:203358244..203364244hg17UCSC Ensembl
Cytoband2q33.1
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 Variantsnsv507064
Supporting Variants
SamplesNA18994
Known GenesFAM117B
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)nssv622837
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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