A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467714



Internal ID8494761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:17491600..17500278hg38UCSC Ensembl
Innerchr11:17513147..17521825hg19UCSC Ensembl
Innerchr11:17469723..17478401hg18UCSC Ensembl
Innerchr11:17469723..17478401hg17UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg388679
hg198679
hg188679
hg178679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542920
SamplesNINDS_258
Known GenesUSH1C
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)nsv467714
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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