A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv456623



Internal ID15170002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:22738859..23117883hg38UCSC Ensembl
Innerchr15:22755185..23134244hg19UCSC Ensembl
Innerchr15:20306549..20685685hg18UCSC Ensembl
Innerchr15:20306549..20685685hg17UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38379025
hg19379060
hg18379137
hg17379137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv287n27
Supporting Variantsnssv533922
Samples1780862444_A
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)nsv456623
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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