A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462871



Internal ID15176250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31607499..31664357hg38UCSC Ensembl
Innerchr6:31575276..31632134hg19UCSC Ensembl
Innerchr6:31683255..31740113hg18UCSC Ensembl
Innerchr6:31683255..31740113hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3856859
hg1956859
hg1856859
hg1756859
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538946
SamplesNINDS_50
Known GenesAIF1, APOM, BAG6, C6orf47, GPANK1, MIR6832, PRRC2A, SNORA38
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)nsv462871
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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