A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv477768



Internal ID15230508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:35806653..35806653hg38UCSC Ensembl
chr7:35846263..35846263hg19UCSC Ensembl
chr7:35812788..35812788hg18UCSC Ensembl
chr7:35619503..35619503hg17UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3011089
SamplesNA18517
Known GenesSEPT7
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)nsv477768
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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