A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464606



Internal ID15177985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:80547768..80682478hg38UCSC Ensembl
Innerchr7:80177084..80311794hg19UCSC Ensembl
Innerchr7:80015020..80149730hg18UCSC Ensembl
Innerchr7:79821735..79956445hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38134711
hg19134711
hg18134711
hg17134711
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540499
Samples1780862075_A
Known GenesCD36
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)nsv464606
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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