A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv481349



Internal ID15234089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:139654872..139654872hg38UCSC Ensembl
chr7:139339618..139339618hg19UCSC Ensembl
chr7:138990158..138990158hg18UCSC Ensembl
chr7:138796873..138796873hg17UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3012561
Samples
Known GenesHIPK2
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)nsv481349
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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