A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456304



Internal ID15516369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47702127..47728456hg38UCSC Ensembl
Innerchr14:48171330..48197659hg19UCSC Ensembl
Innerchr14:47241080..47267409hg18UCSC Ensembl
Innerchr14:47241080..47267409hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3826330
hg1926330
hg1826330
hg1726330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533648
SamplesHGDP01368
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)nsv456304
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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