A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511035



Internal ID15478529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248368969..248416970hg38UCSC Ensembl
Outerchr1:248532270..248580271hg19UCSC Ensembl
Outerchr1:246598893..246646894hg18UCSC Ensembl
Outerchr1:244858311..244906312hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3848002
hg1948002
hg1848002
hg1748002
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624367, nssv618638
SamplesCHM, NA18994
Known GenesOR2T1, OR2T6
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)nsv511035
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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