A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457592



Internal ID15170971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:83994518..84005144hg38UCSC Ensembl
Innerchr16:84028123..84038749hg19UCSC Ensembl
Innerchr16:82585624..82596250hg18UCSC Ensembl
Innerchr16:82585624..82596250hg17UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg3810627
hg1910627
hg1810627
hg1710627
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv357n27
Supporting Variantsnssv534742
SamplesHGDP00784
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)nsv457592
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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