A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457594



Internal ID15170973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83997830..84008053hg38UCSC Ensembl
Innerchr16:84031435..84041658hg19UCSC Ensembl
Innerchr16:82588936..82599159hg18UCSC Ensembl
Innerchr16:82588936..82599159hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3810224
hg1910224
hg1810224
hg1710224
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534744
SamplesHGDP01009
Known GenesNECAB2
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)nsv457594
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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