A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510815



Internal ID15826840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:11920274..11960570hg38UCSC Ensembl
OuterchrX:11938393..11978689hg19UCSC Ensembl
OuterchrX:11848314..11888610hg18UCSC Ensembl
OuterchrX:11698050..11738346hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3840297
hg1940297
hg1840297
hg1740297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618863, nssv622619
SamplesNA18994, NA10860
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)nsv510815
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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