A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468604



Internal ID8495651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67418529..67516420hg38UCSC Ensembl
Innerchr11:67186000..67283891hg19UCSC Ensembl
Innerchr11:66942576..67040467hg18UCSC Ensembl
Innerchr11:66942576..67040467hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3897892
hg1997892
hg1897892
hg1797892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543707
SamplesNINDS_173
Known GenesAIP, CABP4, CARNS1, CDK2AP2, CORO1B, GPR152, MIR6752, PITPNM1, PTPRCAP, RPS6KB2, TMEM134
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)nsv468604
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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