A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv448



Internal ID15549193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:95430859..95450499hg38UCSC Ensembl
Outerchr11:95164023..95183663hg19UCSC Ensembl
Outerchr11:94803671..94823311hg18UCSC Ensembl
Outerchr11:94803671..94823311hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3819641
hg1919641
hg1819641
hg1719641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980
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)nsv448
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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