A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457326



Internal ID15170705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1148938..1220162hg38UCSC Ensembl
Innerchr16:1198938..1270162hg19UCSC Ensembl
Innerchr16:1138939..1210163hg18UCSC Ensembl
Innerchr16:1138939..1210163hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3871225
hg1971225
hg1871225
hg1771225
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534536
SamplesHGDP00656
Known GenesCACNA1H
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)nsv457326
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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