A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467961



Internal ID8495008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201316584..201534604hg38UCSC Ensembl
Innerchr1:201285712..201503732hg19UCSC Ensembl
Innerchr1:199552335..199770355hg18UCSC Ensembl
Innerchr1:198017369..198235389hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38218021
hg19218021
hg18218021
hg17218021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543097
SamplesHGDP00456
Known GenesCSRP1, LAD1, PHLDA3, PKP1, RPS10P7, TNNI1, TNNT2
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)nsv467961
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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