A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464277



Internal ID15524342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:3915884..4573976hg38UCSC Ensembl
Innerchr7:3955516..4613607hg19UCSC Ensembl
Innerchr7:3922042..4580133hg18UCSC Ensembl
Innerchr7:3728757..4386848hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38658093
hg19658092
hg18658092
hg17658092
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv797n27
Supporting Variantsnssv540217
SamplesHGDP01014
Known GenesSDK1
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)nsv464277
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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