A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467711



Internal ID15181090
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17006008..17299250hg38UCSC Ensembl
Innerchr11:17027555..17320797hg19UCSC Ensembl
Innerchr11:16984131..17277373hg18UCSC Ensembl
Innerchr11:16984131..17277373hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg38293243
hg19293243
hg18293243
hg17293243
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542917
SamplesNINDS_241
Known GenesNUCB2, OR7E14P, PIK3C2A, PLEKHA7, RPS13
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)nsv467711
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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