A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510874



Internal ID15826897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:12057003..12125658hg38UCSC Ensembl
OuterchrY:14177709..14246364hg19UCSC Ensembl
OuterchrY:12687709..12756364hg18UCSC Ensembl
OuterchrY:12616446..12685101hg17UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg3868656
hg1968656
hg1868656
hg1768656
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622654
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)nsv510874
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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