A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510935



Internal ID15478429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:63519539..63539820hg38UCSC Ensembl
Outerchr1:63985210..64005491hg19UCSC Ensembl
Outerchr1:63757798..63778079hg18UCSC Ensembl
Outerchr1:63697231..63717512hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3820282
hg1920282
hg1820282
hg1720282
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621650
SamplesNA15510
Known GenesEFCAB7, ITGB3BP
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)nsv510935
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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