A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456198



Internal ID15169577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31450522..31503083hg38UCSC Ensembl
Innerchr14:31919728..31972289hg19UCSC Ensembl
Innerchr14:30989479..31042040hg18UCSC Ensembl
Innerchr14:30989479..31042040hg17UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3852562
hg1952562
hg1852562
hg1752562
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533567
SamplesNINDS_132
Known GenesDTD2, GPR33
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)nsv456198
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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