A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539031



Internal ID15502424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65912453..65946204hg38UCSC Ensembl
Innerchr6:66622346..66656097hg19UCSC Ensembl
Innerchr6:66679067..66712818hg18UCSC Ensembl
Innerchr6:66679067..66712818hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3833752
hg1933752
hg1833752
hg1733752
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462991
Supporting Variants
Samples1780854341_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)nssv539031
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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