A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463953



Internal ID15524018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:92238746..92263524hg38UCSC Ensembl
Innerchr6:92948464..92973242hg19UCSC Ensembl
Innerchr6:93005185..93029963hg18UCSC Ensembl
Innerchr6:93005185..93029963hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3824779
hg1924779
hg1824779
hg1724779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv539966
Samples1780862574_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)nsv463953
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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