A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510780



Internal ID15478276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:2746049..2832153hg38UCSC Ensembl
Outerchr20:2726695..2812799hg19UCSC Ensembl
Outerchr20:2674695..2760799hg18UCSC Ensembl
Outerchr20:2674695..2760799hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3886105
hg1986105
hg1886105
hg1786105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622796
SamplesNA18994
Known GenesC20orf141, CPXM1, EBF4, TMEM239
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)nsv510780
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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