A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461613



Internal ID15174992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:109000908..109672304hg38UCSC Ensembl
Innerchr4:109922064..110593460hg19UCSC Ensembl
Innerchr4:110141513..110812909hg18UCSC Ensembl
Innerchr4:110279668..110951064hg17UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38671397
hg19671397
hg18671397
hg17671397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537987
SamplesHGDP01041
Known GenesCCDC109B, COL25A1, SEC24B, SEC24B-AS1
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)nsv461613
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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