A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466334



Internal ID15179713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:27028949..27098942hg38UCSC Ensembl
Innerchr9:27028947..27098940hg19UCSC Ensembl
Innerchr9:27018947..27088940hg18UCSC Ensembl
Innerchr9:27018947..27088940hg17UCSC Ensembl
Cytoband9p21.2
Allele length
AssemblyAllele length
hg3869994
hg1969994
hg1869994
hg1769994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541907
SamplesHGDP00573
Known GenesIFT74
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)nsv466334
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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