A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510850



Internal ID15478346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:100727533..100827717hg38UCSC Ensembl
OuterchrX:99982521..100082706hg19UCSC Ensembl
OuterchrX:99869177..99969362hg18UCSC Ensembl
OuterchrX:99788666..99888851hg17UCSC Ensembl
CytobandXq22.1
Allele length
AssemblyAllele length
hg38100185
hg19100186
hg18100186
hg17100186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622643
SamplesNA18994
Known GenesCSTF2, SYTL4
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)nsv510850
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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