A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462992



Internal ID15523057
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539032
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)nsv462992
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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