A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510846



Internal ID15826871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:91441368..91460532hg38UCSC Ensembl
OuterchrX:90696367..90715531hg19UCSC Ensembl
OuterchrX:90583023..90602187hg18UCSC Ensembl
OuterchrX:90502512..90521676hg17UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3819165
hg1919165
hg1819165
hg1719165
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622641
SamplesNA18994
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)nsv510846
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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