A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464245



Internal ID15177624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:886440..1065790hg38UCSC Ensembl
Innerchr7:926077..1105426hg19UCSC Ensembl
Innerchr7:892603..1071952hg18UCSC Ensembl
Innerchr7:699318..878667hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38179351
hg19179350
hg18179350
hg17179350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540190
Samples1798860071_A
Known GenesADAP1, C7orf50, COX19, CYP2W1, GET4, GPR146, MIR339
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)nsv464245
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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