A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468885



Internal ID15182264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:125191896..125214846hg38UCSC Ensembl
Innerchr11:125061792..125084742hg19UCSC Ensembl
Innerchr11:124567002..124589952hg18UCSC Ensembl
Innerchr11:124567002..124589952hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3822951
hg1922951
hg1822951
hg1722951
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543939
SamplesNINDS_272
Known GenesPKNOX2
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)nsv468885
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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