A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv346



Internal ID15201385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:62476194..62510120hg38UCSC Ensembl
Outerchr11:62243666..62277592hg19UCSC Ensembl
Outerchr11:62000242..62034168hg18UCSC Ensembl
Outerchr11:62000242..62034168hg17UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg385508
hg195508
hg185508
hg175508
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8919
SamplesNA12156
Known GenesAHNAK
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)nsv346
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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