A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465679



Internal ID15525744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:50971367..51277236hg38UCSC Ensembl
Innerchr8:51883927..52189796hg19UCSC Ensembl
Innerchr8:52046480..52352349hg18UCSC Ensembl
Innerchr8:52046480..52352349hg17UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38305870
hg19305870
hg18305870
hg17305870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541434
Samples1780862345_A
Known Genes
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)nsv465679
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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