A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508682



Internal ID15824709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:190906297..190946914hg38UCSC Ensembl
Outerchr1:190875427..190916044hg19UCSC Ensembl
Outerchr1:189142050..189182667hg18UCSC Ensembl
Outerchr1:187607084..187647701hg17UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3840618
hg1940618
hg1840618
hg1740618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618994
SamplesNA10860
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)nsv508682
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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