A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510823



Internal ID15826848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:28491311..28510213hg38UCSC Ensembl
OuterchrX:28509428..28528330hg19UCSC Ensembl
OuterchrX:28419349..28438251hg18UCSC Ensembl
OuterchrX:28269085..28287987hg17UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg3818903
hg1918903
hg1818903
hg1718903
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622624
SamplesNA18994
Known GenesMIR6134
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)nsv510823
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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