A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508623



Internal ID15480299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:35073386..35181816hg38UCSC Ensembl
Outerchr11:35094933..35203363hg19UCSC Ensembl
Outerchr11:35051509..35159939hg18UCSC Ensembl
Outerchr11:35051509..35159939hg17UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38108431
hg19108431
hg18108431
hg17108431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618694, nssv622446
SamplesNA18994, NA10860
Known GenesCD44
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)nsv508623
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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