A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509513



Internal ID6098058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155902113..156148581hg19UCSC Ensembl
Outerchr1:154168737..154415205hg18UCSC Ensembl
Outerchr1:152715186..152961654hg17UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv623799, nssv623800
SamplesNA18994
Known GenesARHGEF2, KIAA0907, LAMTOR2, LMNA, MEX3A, RAB25, RXFP4, SEMA4A, SSR2, UBQLN4
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)nsv509513
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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