A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv467634



Internal ID15181013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:511805..619789hg38UCSC Ensembl
Innerchr11:511805..619789hg19UCSC Ensembl
Innerchr11:501805..609789hg18UCSC Ensembl
Innerchr11:501805..609789hg17UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg38107985
hg19107985
hg18107985
hg17107985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv542857
Samples1780862487_A
Known GenesC11orf35, CDHR5, HRAS, IRF7, LOC143666, LRRC56, MIR210, MIR210HG, PHRF1, RASSF7
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)nsv467634
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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