A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510848



Internal ID15826873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:94018187..94067428hg38UCSC Ensembl
OuterchrX:93273186..93322427hg19UCSC Ensembl
OuterchrX:93159842..93209083hg18UCSC Ensembl
OuterchrX:93079331..93128572hg17UCSC Ensembl
CytobandXq21.32
Allele length
AssemblyAllele length
hg3849242
hg1949242
hg1849242
hg1749242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618879
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)nsv510848
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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