A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510830



Internal ID15478326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42735046..42817465hg38UCSC Ensembl
OuterchrX:42594297..42676716hg19UCSC Ensembl
OuterchrX:42479241..42561660hg18UCSC Ensembl
OuterchrX:42350551..42432970hg17UCSC Ensembl
CytobandXp11.3
Allele length
AssemblyAllele length
hg3882420
hg1982420
hg1882420
hg1782420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622631
SamplesNA18994
Known GenesPPP1R2P9
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)nsv510830
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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