A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510854



Internal ID15826879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:116655979..116675135hg38UCSC Ensembl
OuterchrX:115789947..115809103hg19UCSC Ensembl
OuterchrX:115673975..115693131hg18UCSC Ensembl
OuterchrX:115571829..115590985hg17UCSC Ensembl
CytobandXq23
Allele length
AssemblyAllele length
hg3819157
hg1919157
hg1819157
hg1719157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622646
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)nsv510854
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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