A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509679



Internal ID15825705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:236051828..236118184hg38UCSC Ensembl
Outerchr1:236215128..236281484hg19UCSC Ensembl
Outerchr1:234281751..234348107hg18UCSC Ensembl
Outerchr1:232541169..232607525hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg388212
hg198212
hg188212
hg178212
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623815, nssv621112, nssv619828
SamplesNA15510, NA18994, NA10860
Known GenesNID1
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)nsv509679
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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