A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3015233



Internal ID15215399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:106268374..106268374hg38UCSC Ensembl
chr7:105908820..105908820hg19UCSC Ensembl
chr7:105696056..105696056hg18UCSC Ensembl
chr7:105502771..105502771hg17UCSC Ensembl
Cytoband7q22.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv475946
Supporting Variants
SamplesNA12878
Known GenesNAMPT
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3015233
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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