A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv481561



Internal ID15580987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:91387226..91387226hg38UCSC Ensembl
chr1:91852783..91852783hg19UCSC Ensembl
chr1:91625371..91625371hg18UCSC Ensembl
chr1:91564804..91564804hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1n35
Supporting Variantsnssv3011961
Samples
Known GenesHFM1
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)nsv481561
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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