A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623600



Internal ID15822173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:115373783..115436253hg38UCSC Ensembl
OuterchrX:114608429..114671010hg19UCSC Ensembl
OuterchrX:114514685..114577266hg18UCSC Ensembl
OuterchrX:114431409..114493990hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg385684
hg195684
hg185684
hg175684
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508793
Supporting Variants
SamplesNA18994
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)nssv623600
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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