A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv455697



Internal ID15515762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062091..13145476hg38UCSC Ensembl
Innerchr2:13202216..13285601hg19UCSC Ensembl
Innerchr2:13119667..13203052hg18UCSC Ensembl
Innerchr2:13152814..13236199hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3883386
hg1983386
hg1883386
hg1783386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv442n27
Supporting Variantsnssv533205
SamplesHGDP01274
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)nsv455697
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