A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542917



Internal ID15165703
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 Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467711
Supporting Variants
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)nssv542917
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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