A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510818



Internal ID15478314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:18174003..18221981hg38UCSC Ensembl
OuterchrX:18192123..18240101hg19UCSC Ensembl
OuterchrX:18102044..18150022hg18UCSC Ensembl
OuterchrX:17951780..17999758hg17UCSC Ensembl
CytobandXp22.13
Allele length
AssemblyAllele length
hg3847979
hg1947979
hg1847979
hg1747979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622621
SamplesNA18994
Known GenesBEND2
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)nsv510818
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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