A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508195



Internal ID15824222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:204100406..204130765hg38UCSC Ensembl
Outerchr2:204965129..204995488hg19UCSC Ensembl
Outerchr2:204673374..204703733hg18UCSC Ensembl
Outerchr2:204790635..204820994hg17UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg3830360
hg1930360
hg1830360
hg1730360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620200
SamplesNA15510
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)nsv508195
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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