A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508417



Internal ID15824444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:80580799..80620873hg38UCSC Ensembl
Outerchr6:81290516..81330590hg19UCSC Ensembl
Outerchr6:81347235..81387309hg18UCSC Ensembl
Outerchr6:81347235..81387309hg17UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3840075
hg1940075
hg1840075
hg1740075
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622552
SamplesNA18994
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)nsv508417
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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