A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464690



Internal ID15524755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:113268733..113349717hg38UCSC Ensembl
Innerchr7:112908788..112989772hg19UCSC Ensembl
Innerchr7:112696024..112777008hg18UCSC Ensembl
Innerchr7:112502739..112583723hg17UCSC Ensembl
Cytoband7q31.1
Allele length
AssemblyAllele length
hg3880985
hg1980985
hg1880985
hg1780985
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540563
Samples1780862576_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)nsv464690
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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