A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456319



Internal ID15516384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56713996..56729537hg38UCSC Ensembl
Innerchr14:57180714..57196255hg19UCSC Ensembl
Innerchr14:56250467..56266008hg18UCSC Ensembl
Innerchr14:56250467..56266008hg17UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3815542
hg1915542
hg1815542
hg1715542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533662
SamplesHGDP00158
Known Genes
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)nsv456319
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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