A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3014513



Internal ID15222116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:129708949..129708949hg38UCSC Ensembl
chr8:130721195..130721195hg19UCSC Ensembl
chr8:130790377..130790377hg18UCSC Ensembl
chr8:130790377..130790377hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv479618
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA contig. The coordinate provided is from the mappable end of a contig assembled from multiple read pairs, and indicates the genomic vicinity of a novel sequence insertion.
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3014513
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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