A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465524



Internal ID15178903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14037682..14115956hg38UCSC Ensembl
Innerchr8:13895191..13973465hg19UCSC Ensembl
Innerchr8:13939562..14017836hg18UCSC Ensembl
Innerchr8:13939562..14017836hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3878275
hg1978275
hg1878275
hg1778275
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541316
SamplesHGDP01270
Known GenesSGCZ
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)nsv465524
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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