A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468624



Internal ID15182003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:69792739..69864574hg38UCSC Ensembl
Innerchr11:69607507..69679342hg19UCSC Ensembl
Innerchr11:69316688..69388070hg18UCSC Ensembl
Innerchr11:69316688..69388070hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg3871836
hg1971836
hg1871383
hg1771383
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543725
Samples1780862444_A
Known GenesFGF3
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)nsv468624
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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