A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463958



Internal ID15524023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:92390188..92418235hg38UCSC Ensembl
Innerchr6:93099906..93127953hg19UCSC Ensembl
Innerchr6:93156627..93184674hg18UCSC Ensembl
Innerchr6:93156627..93184674hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3828048
hg1928048
hg1828048
hg1728048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv776n27
Supporting Variantsnssv539968
Samples1780854495_A
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)nsv463958
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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