A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456628



Internal ID15170007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22732985..23117883hg38UCSC Ensembl
Innerchr15:22755185..23140114hg19UCSC Ensembl
Innerchr15:20306549..20691555hg18UCSC Ensembl
Innerchr15:20306549..20691555hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38384899
hg19384930
hg18385007
hg17385007
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287n27
Supporting Variantsnssv533927
SamplesHGDP01103
Known GenesCYFIP1, LOC283683, 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)nsv456628
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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