A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514



Internal ID15203233
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:119114552..119143217hg38UCSC Ensembl
Outerchr11:118985262..119013927hg19UCSC Ensembl
Outerchr11:118490472..118519137hg18UCSC Ensembl
Outerchr11:118490472..118519137hg17UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3828666
hg1928666
hg1828666
hg1728666
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8966
SamplesNA12156
Known GenesC2CD2L, HINFP
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)nsv514
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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