A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510824



Internal ID15826849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:32579298..32595458hg38UCSC Ensembl
OuterchrX:32597415..32613575hg19UCSC Ensembl
OuterchrX:32507336..32523496hg18UCSC Ensembl
OuterchrX:32357072..32373232hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3816161
hg1916161
hg1816161
hg1716161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622625
SamplesNA18994
Known GenesDMD
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)nsv510824
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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