A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv342



Internal ID15548027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:61559912..61593635hg38UCSC Ensembl
Outerchr11:61327384..61361107hg19UCSC Ensembl
Outerchr11:61083960..61117683hg18UCSC Ensembl
Outerchr11:61083960..61117683hg17UCSC Ensembl
Cytoband11q12.2
Allele length
AssemblyAllele length
hg385713
hg195713
hg185713
hg175713
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8917
SamplesNA12156
Known GenesSYT7
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)nsv342
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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