A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456391



Internal ID15169770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88427866..88573973hg38UCSC Ensembl
Innerchr14:88894210..89040317hg19UCSC Ensembl
Innerchr14:87963963..88110070hg18UCSC Ensembl
Innerchr14:87963963..88110070hg17UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38146108
hg19146108
hg18146108
hg17146108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533723
SamplesHGDP00807
Known GenesPTPN21, SPATA7, ZC3H14
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)nsv456391
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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