A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462942



Internal ID15523007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48512528..48630463hg38UCSC Ensembl
Innerchr6:48480264..48598199hg19UCSC Ensembl
Innerchr6:48588223..48706158hg18UCSC Ensembl
Innerchr6:48588223..48706158hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38117936
hg19117936
hg18117936
hg17117936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv538995
Samples1780862014_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)nsv462942
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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