A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511083



Internal ID15827105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:42154491..42254569hg38UCSC Ensembl
OuterchrX:42013744..42113822hg19UCSC Ensembl
OuterchrX:41898688..41998766hg18UCSC Ensembl
OuterchrX:41769998..41870076hg17UCSC Ensembl
CytobandXp11.4
Allele length
AssemblyAllele length
hg38100079
hg19100079
hg18100079
hg17100079
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622394
SamplesNA10860
Known Genes
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)nsv511083
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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