A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv309



Internal ID15200978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:46378128..46418953hg38UCSC Ensembl
Outerchr11:46399678..46440503hg19UCSC Ensembl
Outerchr11:46356254..46397079hg18UCSC Ensembl
Outerchr11:46356254..46397079hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3840826
hg1940826
hg1840826
hg1740826
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8908
SamplesNA12156
Known GenesAMBRA1, CHRM4, DGKZ, MDK
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)nsv309
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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