A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6575



Internal ID15204812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:78289432..78315321hg38UCSC Ensembl
Outerchr9:80904348..80930237hg19UCSC Ensembl
Outerchr9:80094168..80120057hg18UCSC Ensembl
Outerchr9:78133902..78159791hg17UCSC Ensembl
Cytoband9q21.2
Allele length
AssemblyAllele length
hg385815
hg195815
hg185815
hg175815
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8616
SamplesNA12156
Known GenesPSAT1
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)nsv6575
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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