A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457597



Internal ID15170976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:84182086..84215151hg38UCSC Ensembl
Innerchr16:84215692..84248757hg19UCSC Ensembl
Innerchr16:82773193..82806258hg18UCSC Ensembl
Innerchr16:82773193..82806258hg17UCSC Ensembl
Cytoband16q24.1
Allele length
AssemblyAllele length
hg3833066
hg1933066
hg1833066
hg1733066
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534747
SamplesNINDS_6
Known GenesADAD2, TAF1C
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)nsv457597
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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