A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464050



Internal ID15177429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:154596207..154828771hg38UCSC Ensembl
Innerchr1:154568683..154801247hg19UCSC Ensembl
Innerchr1:152835307..153067871hg18UCSC Ensembl
Innerchr1:151381756..151614320hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38232565
hg19232565
hg18232565
hg17232565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540042
SamplesHGDP01370
Known GenesADAR, KCNN3
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)nsv464050
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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