A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510842



Internal ID6098363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82761803..82804446hg19UCSC Ensembl
OuterchrX:82648459..82691102hg18UCSC Ensembl
OuterchrX:82567948..82610591hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg193871
hg183871
hg173871
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv618874
SamplesNA10860
Known GenesPOU3F4
Method
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)nsv510842
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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