A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462608



Internal ID15522673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:403799..442410hg38UCSC Ensembl
Innerchr6:403799..442410hg19UCSC Ensembl
Innerchr6:348799..387410hg18UCSC Ensembl
Innerchr6:348799..387410hg17UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3838612
hg1938612
hg1838612
hg1738612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538726
Samples1780862093_A
Known GenesIRF4
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)nsv462608
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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