A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617452



Internal ID15469921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:155686374..155710408hg38UCSC Ensembl
OuterchrX:154916035..154940069hg19UCSC Ensembl
OuterchrX:154569229..154593263hg18UCSC Ensembl
OuterchrX:154479739..154503773hg17UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3824035
hg1924035
hg1824035
hg1724035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510870
Supporting Variants
SamplesCHM
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)nssv617452
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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