A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462609



Internal ID15175988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:580362..833579hg38UCSC Ensembl
Innerchr6:580362..833579hg19UCSC Ensembl
Innerchr6:525362..778579hg18UCSC Ensembl
Innerchr6:525362..778579hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38253218
hg19253218
hg18253218
hg17253218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538727
Samples1788485589_A
Known GenesEXOC2, HUS1B
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)nsv462609
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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