A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466337



Internal ID15179716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:27250870..27353462hg38UCSC Ensembl
Innerchr9:27250868..27353460hg19UCSC Ensembl
Innerchr9:27240868..27343460hg18UCSC Ensembl
Innerchr9:27240868..27343460hg17UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg38102593
hg19102593
hg18102593
hg17102593
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541909
Samples1780862529_A
Known GenesEQTN, LINC00032, MOB3B
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)nsv466337
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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