A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508617



Internal ID15480293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:9292480..9387015hg38UCSC Ensembl
Outerchr11:9314027..9408562hg19UCSC Ensembl
Outerchr11:9270603..9365138hg18UCSC Ensembl
Outerchr11:9270603..9365138hg17UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3894536
hg1994536
hg1894536
hg1794536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619018
SamplesNA10860
Known GenesIPO7, TMEM41B
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)nsv508617
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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