A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462936



Internal ID15523001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:44224183..44314579hg38UCSC Ensembl
Innerchr6:44191920..44282316hg19UCSC Ensembl
Innerchr6:44299898..44390294hg18UCSC Ensembl
Innerchr6:44299898..44390294hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3890397
hg1990397
hg1890397
hg1790397
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538991
Samples1780862300_A
Known GenesAARS2, HSP90AB1, MIR4647, NFKBIE, SLC29A1, SLC35B2, TCTE1, TMEM151B
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)nsv462936
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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