A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511089



Internal ID15827111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:171703765..171777289hg38UCSC Ensembl
Outerchr2:172560275..172633799hg19UCSC Ensembl
Outerchr2:172268521..172342045hg18UCSC Ensembl
Outerchr2:172385782..172459306hg17UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3873525
hg1973525
hg1873525
hg1773525
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv624287
SamplesNA18994
Known GenesDYNC1I2
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)nsv511089
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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