A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464363



Internal ID15524428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:10123160..10171980hg38UCSC Ensembl
Innerchr7:10162787..10211607hg19UCSC Ensembl
Innerchr7:10129312..10178132hg18UCSC Ensembl
Innerchr7:9936027..9984847hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3848821
hg1948821
hg1848821
hg1748821
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv805n27
Supporting Variantsnssv540292
SamplesHGDP01041
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)nsv464363
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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