A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7081



Internal ID15552055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrX:127457235..127487444hg38UCSC Ensembl
OuterchrX:126591216..126621425hg19UCSC Ensembl
OuterchrX:126418897..126449106hg18UCSC Ensembl
OuterchrX:126316751..126346960hg17UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg3830210
hg1930210
hg1830210
hg1730210
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3826
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv7081
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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