A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508811



Internal ID15476310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150663751..150718401hg38UCSC Ensembl
OuterchrX:149832224..149886873hg19UCSC Ensembl
OuterchrX:149582882..149637531hg18UCSC Ensembl
OuterchrX:149502792..149557441hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg383945
hg193945
hg183945
hg173945
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623612
SamplesNA18994
Known GenesMTM1, MTMR1
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)nsv508811
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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