A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468929



Internal ID15528994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:134484618..134849175hg38UCSC Ensembl
Innerchr11:134354512..134719069hg19UCSC Ensembl
Innerchr11:133859722..134224279hg18UCSC Ensembl
Innerchr11:133859722..134224279hg17UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38364558
hg19364558
hg18364558
hg17364558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv172n27
Supporting Variantsnssv543971
Samples1780862484_A
Known GenesLOC283177
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)nsv468929
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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