A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460751



Internal ID15520816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21632043..21662129hg38UCSC Ensembl
Innerchr1:21958536..21988622hg19UCSC Ensembl
Innerchr1:21831123..21861209hg18UCSC Ensembl
Innerchr1:21703842..21733928hg17UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3830087
hg1930087
hg1830087
hg1730087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537263
Samples1780854065_A
Known GenesRAP1GAP
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)nsv460751
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