A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543711



Internal ID15157300
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:67605006..67666398hg38UCSC Ensembl
Innerchr11:67372477..67433869hg19UCSC Ensembl
Innerchr11:67129053..67190445hg18UCSC Ensembl
Innerchr11:67129053..67190445hg17UCSC Ensembl
Cytoband11q13.2
Allele length
AssemblyAllele length
hg3861393
hg1961393
hg1861393
hg1761393
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv468608
Supporting Variants
Samples1780862484_A
Known GenesACY3, ALDH3B2, DOC2GP, NDUFV1, NUDT8, TBX10
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)nssv543711
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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