A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457623



Internal ID15171002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89664419..89853617hg38UCSC Ensembl
Innerchr16:89730827..89920025hg19UCSC Ensembl
Innerchr16:88258328..88447526hg18UCSC Ensembl
Innerchr16:88258328..88447526hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38189199
hg19189199
hg18189199
hg17189199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534769
SamplesHGDP00629
Known GenesCDK10, FANCA, SPATA2L, SPATA33, SPIRE2, VPS9D1, VPS9D1-AS1, ZNF276
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)nsv457623
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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