A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508205



Internal ID15479881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237889539..237970025hg38UCSC Ensembl
Outerchr2:238798181..238878667hg19UCSC Ensembl
Outerchr2:238462920..238543406hg18UCSC Ensembl
Outerchr2:238580181..238660667hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3880487
hg1980487
hg1880487
hg1780487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622450
SamplesNA18994
Known GenesRAMP1, UBE2F, UBE2F-SCLY
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)nsv508205
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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