A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508761



Internal ID15824788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:33390541..33433149hg38UCSC Ensembl
OuterchrX:33408658..33451266hg19UCSC Ensembl
OuterchrX:33318579..33361187hg18UCSC Ensembl
OuterchrX:33168315..33210923hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg385666
hg195666
hg185666
hg175666
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619583, nssv623582
SamplesNA18994, NA10860
Known Genes
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)nsv508761
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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