A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3020304



Internal ID15564248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139408700..139408700hg38UCSC Ensembl
chr3:139127542..139127542hg19UCSC Ensembl
chr3:140610232..140610232hg18UCSC Ensembl
chr3:140610240..140610240hg17UCSC Ensembl
Cytoband3q23
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 Variantsnsv478134
Supporting Variants
SamplesNA18507
Known Genes
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)nssv3020304
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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