A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3014607



Internal ID15568532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:77917552..77917552hg38UCSC Ensembl
chr2:78144678..78144678hg19UCSC Ensembl
chr2:77998186..77998186hg18UCSC Ensembl
chr2:78056333..78056333hg17UCSC Ensembl
Cytoband2p12
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 Variantsnsv475233
Supporting Variants
SamplesNA19240
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)nssv3014607
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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