A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508766



Internal ID8791707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:46822103..46844490hg19UCSC Ensembl
OuterchrX:46707047..46729434hg18UCSC Ensembl
OuterchrX:46578357..46600744hg17UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg193489
hg183489
hg173489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623584
SamplesNA18994
Known GenesJADE3
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)nsv508766
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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