A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539032



Internal ID15506877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:65918786..66111599hg38UCSC Ensembl
Innerchr6:66628679..66821492hg19UCSC Ensembl
Innerchr6:66685400..66878213hg18UCSC Ensembl
Innerchr6:66685400..66878213hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38192814
hg19192814
hg18192814
hg17192814
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv462992
Supporting Variants
SamplesHGDP00571
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)nssv539032
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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