A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456205



Internal ID15516270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35303734..35357164hg38UCSC Ensembl
Innerchr14:35772940..35826370hg19UCSC Ensembl
Innerchr14:34842691..34896121hg18UCSC Ensembl
Innerchr14:34842691..34896121hg17UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg3853431
hg1953431
hg1853431
hg1753431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533571
SamplesNINDS_62
Known GenesPSMA6
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)nsv456205
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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