A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508813



Internal ID15476312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:150735078..150811481hg38UCSC Ensembl
OuterchrX:149903550..149979954hg19UCSC Ensembl
OuterchrX:149654208..149730612hg18UCSC Ensembl
OuterchrX:149574118..149650522hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg386559
hg196559
hg186559
hg176559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623613
SamplesNA18994
Known GenesCD99L2, 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)nsv508813
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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