A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv458707



Internal ID15518772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100071316..100137028hg38UCSC Ensembl
Innerchr2:100687778..100753490hg19UCSC Ensembl
Innerchr2:100054210..100119922hg18UCSC Ensembl
Innerchr2:100146296..100212008hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3865713
hg1965713
hg1865713
hg1765713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv535619
Samples1780862592_A
Known GenesAFF3
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv458707
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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