A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3011078



Internal ID15569884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:125050656..125050656hg38UCSC Ensembl
chr3:124769500..124769500hg19UCSC Ensembl
chr3:126252190..126252190hg18UCSC Ensembl
chr3:126252190..126252190hg17UCSC Ensembl
Cytoband3q21.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv480421
Supporting Variants
Samples
Known GenesHEG1
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)nssv3011078
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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