A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468641



Internal ID15182020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:77590296..77709269hg38UCSC Ensembl
Innerchr11:77301341..77420314hg19UCSC Ensembl
Innerchr11:76978989..77097962hg18UCSC Ensembl
Innerchr11:76978989..77097962hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38118974
hg19118974
hg18118974
hg17118974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543733
Samples1780862469_A
Known GenesAQP11, CLNS1A, RSF1
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)nsv468641
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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