A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468892



Internal ID15182271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:128903518..128934894hg38UCSC Ensembl
Innerchr11:128773413..128804789hg19UCSC Ensembl
Innerchr11:128278623..128309999hg18UCSC Ensembl
Innerchr11:128278623..128309999hg17UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3831377
hg1931377
hg1831377
hg1731377
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543943
SamplesNINDS_200
Known GenesC11orf45, KCNJ5, TP53AIP1
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)nsv468892
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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