A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619987



Internal ID15819344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:101678130..101703320hg38UCSC Ensembl
Outerchr11:101548861..101574051hg19UCSC Ensembl
Outerchr11:101054071..101079261hg18UCSC Ensembl
Outerchr11:101054071..101079261hg17UCSC Ensembl
Cytoband11q22.1
Allele length
AssemblyAllele length
hg3825191
hg1925191
hg1825191
hg1725191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508653
Supporting Variants
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)nssv619987
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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