A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3017329



Internal ID15223980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7125504..7125504hg38UCSC Ensembl
chr12:7278100..7278100hg19UCSC Ensembl
chr12:7169374..7169374hg18UCSC Ensembl
chr12:7169374..7169374hg17UCSC Ensembl
Cytoband12p13.31
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 Variantsnsv479883
Supporting Variants
Samples
Known GenesRBP5
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)nssv3017329
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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