A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468450



Internal ID15181829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236250146..236383086hg38UCSC Ensembl
Innerchr1:236413446..236546386hg19UCSC Ensembl
Innerchr1:234480069..234613009hg18UCSC Ensembl
Innerchr1:232739487..232872427hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38132941
hg19132941
hg18132941
hg17132941
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543569
SamplesHGDP00307
Known GenesERO1LB
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)nsv468450
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