A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510840



Internal ID15826865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:81840462..81862704hg38UCSC Ensembl
OuterchrX:81095961..81118203hg19UCSC Ensembl
OuterchrX:80982617..81004859hg18UCSC Ensembl
OuterchrX:80902106..80924348hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3822243
hg1922243
hg1822243
hg1722243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618872
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)nsv510840
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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