A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510949



Internal ID15826971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:22486316..22525292hg38UCSC Ensembl
Outerchr9:22486315..22525291hg19UCSC Ensembl
Outerchr9:22476315..22515291hg18UCSC Ensembl
Outerchr9:22476315..22515291hg17UCSC Ensembl
Cytoband9p21.3
Allele length
AssemblyAllele length
hg3838977
hg1938977
hg1838977
hg1738977
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618601, nssv621610
SamplesCHM, NA15510
Known Genes
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)nsv510949
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex2
Frequencyn/a


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