A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508404



Internal ID15480080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:93081826..93114455hg38UCSC Ensembl
Outerchr1:93547383..93580012hg19UCSC Ensembl
Outerchr1:93319971..93352600hg18UCSC Ensembl
Outerchr1:93259404..93292033hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3832630
hg1932630
hg1832630
hg1732630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620137
SamplesNA15510
Known GenesMTF2
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)nsv508404
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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