A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508382



Internal ID15824409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:87512262..87573983hg38UCSC Ensembl
Outerchr1:87977945..88039666hg19UCSC Ensembl
Outerchr1:87750533..87812254hg18UCSC Ensembl
Outerchr1:87689966..87751687hg17UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3861722
hg1961722
hg1861722
hg1761722
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618979
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)nsv508382
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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