A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3016653



Internal ID15563716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:74964990..74964990hg38UCSC Ensembl
chr1:75430674..75430674hg19UCSC Ensembl
chr1:75203262..75203262hg18UCSC Ensembl
chr1:75142695..75142695hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv478887
Supporting Variants
SamplesNA18507
Known Genes
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3016653
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