A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468194



Internal ID15181573
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:220672268..220712270hg38UCSC Ensembl
Innerchr1:220845610..220885612hg19UCSC Ensembl
Innerchr1:218912233..218952235hg18UCSC Ensembl
Innerchr1:217234005..217274007hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3840003
hg1940003
hg1840003
hg1740003
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543325
SamplesHGDP01214
Known GenesC1orf115
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)nsv468194
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