A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456392



Internal ID15169771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90508674..90561264hg38UCSC Ensembl
Innerchr14:90975018..91027608hg19UCSC Ensembl
Innerchr14:90044771..90097361hg18UCSC Ensembl
Innerchr14:90044771..90097361hg17UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg3852591
hg1952591
hg1852591
hg1752591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533724
Samples1780862019_A
Known GenesTTC7B
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)nsv456392
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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