A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456411



Internal ID15516476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96178700..96193336hg38UCSC Ensembl
Innerchr14:96645037..96659673hg19UCSC Ensembl
Innerchr14:95714790..95729426hg18UCSC Ensembl
Innerchr14:95714790..95729426hg17UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3814637
hg1914637
hg1814637
hg1714637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533737
Samples1780854392_A
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)nsv456411
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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