A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508891



Internal ID6095837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12157977..12295102hg19UCSC Ensembl
Outerchr1:12080564..12217689hg18UCSC Ensembl
Outerchr1:12092243..12229368hg17UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg197790
hg187790
hg177790
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv619770
SamplesNA10860
Known GenesMIR4632, TNFRSF1B, TNFRSF8, VPS13D
Method
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)nsv508891
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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