A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508755



Internal ID15824782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:27650400..27691357hg38UCSC Ensembl
OuterchrX:27668517..27709474hg19UCSC Ensembl
OuterchrX:27578438..27619395hg18UCSC Ensembl
OuterchrX:27428174..27469131hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg384122
hg194122
hg184122
hg174122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623580
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)nsv508755
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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