A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456612



Internal ID15516677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22788625..23117883hg38UCSC Ensembl
Innerchr15:22755185..23084443hg19UCSC Ensembl
Innerchr15:20306549..20635884hg18UCSC Ensembl
Innerchr15:20306549..20635884hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38329259
hg19329259
hg18329336
hg17329336
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv533919
SamplesHGDP00573
Known GenesCYFIP1, NIPA1, NIPA2, TUBGCP5
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)nsv456612
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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