A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3020057



Internal ID15569448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:4845080..4845080hg38UCSC Ensembl
chr17:4748375..4748375hg19UCSC Ensembl
chr17:4695034..4695034hg18UCSC Ensembl
chr17:4695034..4695034hg17UCSC Ensembl
Cytoband17p13.2
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 Variantsnsv480878
Supporting Variants
Samples
Known GenesMINK1
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)nssv3020057
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer