A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv538033



Internal ID15162368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:63288065..63537185hg38UCSC Ensembl
Innerchr1:63753736..64002856hg19UCSC Ensembl
Innerchr1:63526324..63775444hg18UCSC Ensembl
Innerchr1:63465757..63714877hg17UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38249121
hg19249121
hg18249121
hg17249121
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv461672
Supporting Variants
SamplesHGDP00935
Known GenesALG6, EFCAB7, FOXD3, ITGB3BP, LINC00466, MIR6068
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)nssv538033
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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