A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508515



Internal ID15824542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:112114918..112190259hg38UCSC Ensembl
Outerchr1:112657540..112732881hg19UCSC Ensembl
Outerchr1:112459063..112534404hg18UCSC Ensembl
Outerchr1:112369582..112444923hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3875342
hg1975342
hg1875342
hg1775342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620141, nssv618984
SamplesNA15510, NA10860
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)nsv508515
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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