A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539984



Internal ID15505645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:94060175..94495560hg38UCSC Ensembl
Innerchr6:94769893..95205278hg19UCSC Ensembl
Innerchr6:94826614..95261999hg18UCSC Ensembl
Innerchr6:94826614..95261999hg17UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38435386
hg19435386
hg18435386
hg17435386
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463974
Supporting Variants
SamplesHGDP00175
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)nssv539984
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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