A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462619



Internal ID15522684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4255474..4472353hg38UCSC Ensembl
Innerchr6:4255708..4472587hg19UCSC Ensembl
Innerchr6:4200707..4417586hg18UCSC Ensembl
Innerchr6:4200707..4417586hg17UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg38216880
hg19216880
hg18216880
hg17216880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv737n27
Supporting Variantsnssv538733
SamplesNINDS_147
Known Genes
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)nsv462619
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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