A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv464248



Internal ID15177627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1612264..1802771hg38UCSC Ensembl
Innerchr7:1651900..1842407hg19UCSC Ensembl
Innerchr7:1618426..1808933hg18UCSC Ensembl
Innerchr7:1425141..1615648hg17UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg38190508
hg19190508
hg18190508
hg17190508
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv540192
Samples1780854436_A
Known GenesELFN1, TFAMP1
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)nsv464248
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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