A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv459994



Internal ID15520059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:193014190..193271097hg38UCSC Ensembl
Innerchr2:193878916..194135822hg19UCSC Ensembl
Innerchr2:193587161..193844067hg18UCSC Ensembl
Innerchr2:193704422..193961328hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg38256908
hg19256907
hg18256907
hg17256907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv536632
SamplesNINDS_206
Known Genes
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)nsv459994
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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