A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622637



Internal ID15821210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:82710105..82760028hg38UCSC Ensembl
OuterchrX:81965554..82015036hg19UCSC Ensembl
OuterchrX:81852210..81901692hg18UCSC Ensembl
OuterchrX:81771699..81821181hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3849924
hg1949483
hg1849483
hg1749483
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510841
Supporting Variants
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)nssv622637
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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